Publications: Manolis Kellis

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  • Affiliation: Professor of Computer Science, MIT and Broad Institute
  • Google Scholar ID: lsYXBx8AAAAJ
  • Total Publications: 424

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Title Year Citations Score
An integrated encyclopedia of DNA elements in the human genome
Nature 489 (7414), 57, 2012
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2012 13537 99.9%
The genotype-tissue expression (GTEx) project
Nature genetics 45 (6), 580-585, 2013
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2013 7262 99.9%
Integrative analysis of 111 reference human epigenomes
Nature 518 (7539), 317-330, 2015
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2015 5833 99.8%
GENCODE reference annotation for the human and mouse genomes
Nucleic acids research 47 (D1), D766-D773, 2019
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2019 2458 99.8%
Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals
Nature 458 (7235), 223-227, 2009
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2009 4710 99.8%
The GTEx Consortium atlas of genetic regulatory effects across human tissues
Science 369 (6509), 1318-1330, 2020
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2020 2208 99.8%
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
Science 348 (6235), 648-660, 2015
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2015 4428 99.8%
GENCODE: the reference human genome annotation for The ENCODE Project
Genome research 22 (9), 1760-1774, 2012
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2012 5114 99.7%
Genetic effects on gene expression across human tissues
Nature 550 (7675), 204-213, 2017
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2017 3186 99.7%
Mapping and analysis of chromatin state dynamics in nine human cell types
Nature 473 (7345), 43-49, 2011
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2011 3212 99.7%
Single-cell transcriptomic analysis of Alzheimer’s disease
Nature 570 (7761), 332-337, 2019
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2019 1621 99.6%
An integrated encyclopedia of DNA elements in the human genome
Nature 489 (7414), 57-74, 2012
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2012 2989 99.6%
Pan-cancer analysis of whole genomes
Nature 578 (7793), 82-93, 2020
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2020 1357 99.6%
Genome sequence, comparative analysis and haplotype structure of the domestic dog
Nature 438 (7069), 803-819, 2005
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2005 3050 99.6%
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
Nature genetics 51 (2), 237-244, 2019
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2019 1366 99.6%
Histone modifications at human enhancers reflect global cell-type-specific gene expression
Nature 459 (7243), 108-112, 2009
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2009 2808 99.5%
ChromHMM: automating chromatin-state discovery and characterization
Nature methods 9 (3), 215-216, 2012
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2012 2371 99.4%
Discrete small RNA-generating loci as master regulators of transposon activity in Drosophila
Cell 128 (6), 1089-1103, 2007
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2007 2664 99.4%
HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
Nucleic acids research 40 (D1), D930-D934, 2012
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2012 2332 99.4%
Expanded encyclopaedias of DNA elements in the human and mouse genomes
Nature 583 (7818), 699-710, 2020
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2020 1040 99.4%
Transcriptional regulatory code of a eukaryotic genome
Nature 431 (7004), 99-104, 2004
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2004 2649 99.4%
Systematic discovery of regulatory motifs in human promoters and 3′ UTRs by comparison of several mammals
Nature 434 (7031), 338-345, 2005
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2005 2364 99.4%
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia
Genome research 22 (9), 1813-1831, 2012
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2012 2150 99.3%
A comparative encyclopedia of DNA elements in the mouse genome
Nature 515 (7527), 355-364, 2014
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2014 1858 99.3%
GENCODE 2021
Nucleic acids research 49 (D1), D916-D923, 2021
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2021 625 99.3%
Evolution of genes and genomes on the Drosophila phylogeny
Nature 450 (7167), 203-218, 2007
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2007 2224 99.3%
A gene-based association method for mapping traits using reference transcriptome data
Nature genetics 47 (9), 1091-1098, 2015
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2015 1503 99.1%
Wisdom of crowds for robust gene network inference
Nature methods 9 (8), 796-804, 2012
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2012 1770 99.1%
The NIH roadmap epigenomics mapping consortium
Nature biotechnology 28 (10), 1045-1048, 2010
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2010 1821 99.1%
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans
New England Journal of Medicine 373 (10), 895-907, 2015
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2015 1378 99.0%
Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype
Nature 431 (7011), 946-957, 2004
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2004 2156 99.0%
Sequencing and comparison of yeast species to identify genes and regulatory elements
Nature 423 (6937), 241-254, 2003
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2003 2187 99.0%
The human transcriptome across tissues and individuals
Science 348 (6235), 660-665, 2015
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2015 1271 99.0%
A user's guide to the encyclopedia of DNA elements (ENCODE)
PLoS biology 9 (4), e1001046, 2011
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2011 1433 98.8%
The impact of sex on gene expression across human tissues
Science 369 (6509), eaba3066, 2020
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2020 602 98.8%
The genome sequence of the filamentous fungus Neurospora crassa
Nature 422 (6934), 859-868, 2003
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2003 1963 98.8%
Proof and evolutionary analysis of ancient genome duplication in the yeast Saccharomyces cerevisiae
Nature 428 (6983), 617-624, 2004
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2004 1811 98.7%
Extensive and coordinated transcription of noncoding RNAs within cell-cycle promoters
Nature genetics 43 (7), 621-629, 2011
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2011 1327 98.7%
Evolution of enhanced innate immune evasion by SARS-CoV-2
Nature 602 (7897), 487-495, 2022
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2022 240 98.6%
A high-resolution map of human evolutionary constraint using 29 mammals
Nature 478 (7370), 476-482, 2011
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2011 1238 98.5%
Discovery and characterization of chromatin states for systematic annotation of the human genome
Nature biotechnology 28 (8), 817-825, 2010
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2010 1243 98.5%
The tissue-specific lncRNA Fendrr is an essential regulator of heart and body wall development in the mouse
Developmental cell 24 (2), 206-214, 2013
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2013 1017 98.4%
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Nature 578 (7793), 102-111, 2020
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2020 488 98.4%
Evolution of pathogenicity and sexual reproduction in eight Candida genomes
Nature 459 (7247), 657-662, 2009
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2009 1167 98.4%
A new Voronoi-based surface reconstruction algorithm
Proceedings of the 25th annual conference on Computer graphics and …, 1998
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1998 1526 98.4%
HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease
Nucleic acids research 44 (D1), D877-D881, 2016
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2016 860 98.3%
Landscape of X chromosome inactivation across human tissues
Nature 550 (7675), 244-248, 2017
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2017 804 98.3%
Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci
Nature neuroscience 17 (9), 1156-1163, 2014
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2014 872 98.3%
Genome-wide probing of RNA structure reveals active unfolding of mRNA structures in vivo
Nature 505 (7485), 701-705, 2014
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2014 855 98.2%
Defining functional DNA elements in the human genome
Proceedings of the National Academy of Sciences 111 (17), 6131-6138, 2014
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2014 849 98.2%
A novel approach to high-quality postmortem tissue procurement: the GTEx project
Biopreservation and biobanking 13 (5), 311-319, 2015
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2015 794 98.2%
Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project
Science 330 (6012), 1775-1787, 2010
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2010 1086 98.2%
Identification of functional elements and regulatory circuits by Drosophila modENCODE
Science 330 (6012), 1787, 2010
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2010 1044 98.1%
Comprehensive analysis of the chromatin landscape in Drosophila melanogaster
Nature 471 (7339), 480-485, 2011
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2011 959 97.9%
PhyloCSF: a comparative genomics method to distinguish protein coding and non-coding regions
Bioinformatics 27 (13), i275-i282, 2011
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2011 954 97.9%
Unlocking the secrets of the genome
Nature 459 (7249), 927-930, 2009
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2009 959 97.9%
Chromatin-state discovery and genome annotation with ChromHMM
Nature protocols 12 (12), 2478-2492, 2017
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2017 615 97.7%
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers
Nature genetics 47 (4), 381-386, 2015
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2015 657 97.6%
Multiple knockout mouse models reveal lincRNAs are required for life and brain development
elife 2, e01749, 2013
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2013 723 97.6%
Activity-induced DNA breaks govern the expression of neuronal early-response genes
Cell 161 (7), 1592-1605, 2015
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2015 637 97.5%
Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay
Nature biotechnology 30 (3), 271-277, 2012
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2012 725 97.4%
Regulatory genomic circuitry of human disease loci by integrative epigenomics
Nature 590 (7845), 300-307, 2021
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2021 230 97.4%
An endogenous small interfering RNA pathway in Drosophila
Nature 453 (7196), 798-802, 2008
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2008 839 97.2%
Highly evolvable malaria vectors: The genomes of 16 Anopheles mosquitoes
Science 347 (6217), 1258522, 2015
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2015 579 97.2%
RNA polymerase stalling at developmental control genes in the Drosophila melanogaster embryo
Nature genetics 39 (12), 1512-1516, 2007
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2007 870 97.2%
Dynamic landscape and regulation of RNA editing in mammals
Nature 550 (7675), 249-254, 2017
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2017 521 97.1%
Conserved epigenomic signals in mice and humans reveal immune basis of Alzheimer’s disease
Nature 518 (7539), 365-369, 2015
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2015 565 97.1%
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Nature genetics 49 (6), 834-841, 2017
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2017 484 96.9%
Integrative annotation of chromatin elements from ENCODE data
Nucleic acids research 41 (2), 827-841, 2013
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2013 595 96.9%
Distinguishing protein-coding and noncoding genes in the human genome
Proceedings of the National Academy of Sciences 104 (49), 19428-19433, 2007
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2007 793 96.8%
Genome analysis of the platypus reveals unique signatures of evolution
Nature 453 (7192), 175-183, 2008
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2008 768 96.8%
Determinants of telomere length across human tissues
Science 369 (6509), eaaz6876, 2020
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2020 287 96.8%
Unannotated proteins expand the MHC-I-restricted immunopeptidome in cancer
Nature biotechnology 40 (2), 209-217, 2022
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2022 124 96.7%
APOE4 impairs myelination via cholesterol dysregulation in oligodendrocytes
Nature 611 (7937), 769-779, 2022
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2022 123 96.7%
Single-cell dissection of the human brain vasculature
Nature 603 (7903), 893-899, 2022
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2022 122 96.7%
GENCODE: producing a reference annotation for ENCODE
Genome biology 7 (1), 1-9, 2006
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2006 732 96.5%
A quantitative proteome map of the human body
Cell 183 (1), 269-283. e19, 2020
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2020 268 96.5%
Using an atlas of gene regulation across 44 human tissues to inform complex disease-and trait-associated variation
Nature genetics 50 (7), 956-967, 2018
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2018 402 96.4%
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
Genome biology 22, 1-24, 2021
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2021 181 96.4%
Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures
Nature 450 (7167), 219-232, 2007
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2007 711 96.3%
Systematic discovery and characterization of regulatory motifs in ENCODE TF binding experiments
Nucleic acids research 42 (5), 2976-2987, 2014
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2014 491 96.3%
Interpreting noncoding genetic variation in complex traits and human disease
Nature biotechnology 30 (11), 1095-1106, 2012
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2012 550 96.2%
Pan-cancer analysis of whole genomes
Nature, 2020
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2020 248 96.2%
Evolution, biogenesis, expression, and target predictions of a substantially expanded set of Drosophila microRNAs
Genome research 17 (12), 1850-1864, 2007
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2007 680 96.2%
The genotype-tissue expression (GTEx) project
Biopreservation and biobanking 13 (5), 307-308, 2015
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2015 457 96.1%
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
Genome research 19 (7), 1316-1323, 2009
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2009 621 96.1%
Genomic RNA elements drive phase separation of the SARS-CoV-2 nucleocapsid
Molecular cell 80 (6), 1078-1091. e6, 2020
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2020 243 96.1%
BRCA1 recruitment to transcriptional pause sites is required for R-loop-driven DNA damage repair
Molecular cell 57 (4), 636-647, 2015
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2015 441 95.9%
Common genetic variants modulate pathogen-sensing responses in human dendritic cells
Science 343 (6175), 1246980, 2014
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2014 459 95.9%
APOE4 disrupts intracellular lipid homeostasis in human iPSC-derived glia
Science translational medicine 13 (583), eaaz4564, 2021
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2021 165 95.9%
A cis-regulatory map of the Drosophila genome
Nature 471 (7339), 527-531, 2011
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2011 562 95.8%
SARS-CoV-2 gene content and COVID-19 mutation impact by comparing 44 Sarbecovirus genomes
Nature communications 12 (1), 2642, 2021
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2021 162 95.8%
N6-methyladenosine RNA modification regulates embryonic neural stem cell self-renewal through histone modifications
Nature neuroscience 21 (2), 195-206, 2018
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2018 353 95.8%
Long noncoding RNAs regulate adipogenesis
Proceedings of the National Academy of Sciences 110 (9), 3387-3392, 2013
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2013 476 95.8%
The impact of structural variation on human gene expression
Nature genetics 49 (5), 692-699, 2017
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2017 375 95.7%
Constitutive nuclear lamina–genome interactions are highly conserved and associated with A/T-rich sequence
Genome research 23 (2), 270-280, 2013
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2013 460 95.6%
Comparative functional genomics of the fission yeasts
Science 332 (6032), 930-936, 2011
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2011 525 95.5%
Comparative analysis of metazoan chromatin organization
Nature 512 (7515), 449-452, 2014
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2014 404 95.2%
Evolutionary dynamics and tissue specificity of human long noncoding RNAs in six mammals
Genome research 24 (4), 616-628, 2014
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2014 398 95.1%
Genomic evidence for ameiotic evolution in the bdelloid rotifer Adineta vaga
Nature 500 (7463), 453-457, 2013
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2013 418 95.0%
Large-scale imputation of epigenomic datasets for systematic annotation of diverse human tissues
Nature biotechnology 33 (4), 364-376, 2015
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2015 373 95.0%
Tissue-specific regulatory circuits reveal variable modular perturbations across complex diseases
Nature methods 13 (4), 366-370, 2016
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2016 338 94.9%
Extensive variation in chromatin states across humans
Science 342 (6159), 750-752, 2013
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2013 402 94.8%
GENCODE: reference annotation for the human and mouse genomes in 2023
Nucleic acids research 51 (D1), D942-D949, 2023
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2023 52 94.7%
Reconstruction of the human blood–brain barrier in vitro reveals a pathogenic mechanism of APOE4 in pericytes
Nature medicine 26 (6), 952-963, 2020
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2020 186 94.5%
Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, et al. Genetic effects on gene expression across human tissues
Nature 550 (7675), 204-213, 2017
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2017 298 94.4%
Standardized annotation of translated open reading frames
Nature biotechnology 40 (7), 994-999, 2022
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2022 80 94.4%
Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus
PLoS genetics 6 (2), e1000841, 2010
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2010 452 94.1%
Effect of predicted protein-truncating genetic variants on the human transcriptome
Science 348 (6235), 666-669, 2015
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2015 324 94.0%
Single-cell transcriptomic atlas of the human retina identifies cell types associated with age-related macular degeneration
Nature communications 10 (1), 4902, 2019
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2019 206 94.0%
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
Proceedings of the National Academy of Sciences 111 (42), E4468-E4477, 2014
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2014 328 93.8%
Combinatorial patterning of chromatin regulators uncovered by genome-wide location analysis in human cells
Cell 147 (7), 1628-1639, 2011
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2011 384 93.4%
Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay
Genome research 23 (5), 800-811, 2013
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2013 333 93.4%
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Nature genetics 46 (8), 826-836, 2014
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2014 310 93.4%
Molecular transducers of physical activity consortium (MoTrPAC): mapping the dynamic responses to exercise
Cell 181 (7), 1464-1474, 2020
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2020 156 93.2%
The impact of rare variation on gene expression across tissues
Nature 550 (7675), 239-243, 2017
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2017 250 93.1%
Network deconvolution as a general method to distinguish direct dependencies in networks
Nature biotechnology 31 (8), 726-733, 2013
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2013 319 93.0%
Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis
Communications biology 3 (1), 56, 2020
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2020 150 92.8%
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma
PLoS genetics 8 (4), e1002654, 2012
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2012 327 92.6%
Distinct metabolic programs established in the thymus control effector functions of γδ T cell subsets in tumor microenvironments
Nature immunology 22 (2), 179-192, 2021
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2021 101 92.6%
A Comprehensive Map of Insulator Elements for the Drosophila Genome
PLoS genetics 6 (1), e1000814, 2010
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2010 366 92.4%
Joint profiling of DNA methylation and chromatin architecture in single cells
Nature methods 16 (10), 991-993, 2019
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2019 168 92.4%
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
Cell 184 (10), 2633-2648. e19, 2021
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2021 99 92.4%
Systematic discovery of regulatory motifs in conserved regions of the human genome, including thousands of CTCF insulator sites
Proceedings of the National Academy of Sciences 104 (17), 7145-7150, 2007
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2007 386 92.4%
Network motif discovery using subgraph enumeration and symmetry-breaking
Annual International Conference on Research in Computational Molecular …, 2007
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2007 381 92.2%
Cell type-specific transcriptomics reveals that mutant huntingtin leads to mitochondrial RNA release and neuronal innate immune activation
Neuron 107 (5), 891-908. e8, 2020
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2020 138 92.1%
An epigenetic signature for monoallelic olfactory receptor expression
Cell 145 (4), 555-570, 2011
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2011 311 91.6%
Whole-genome ChIP–chip analysis of Dorsal, Twist, and Snail suggests integration of diverse patterning processes in the Drosophila embryo
Genes & development 21 (4), 385-390, 2007
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2007 354 91.5%
The landscape of genomic imprinting across diverse adult human tissues
Genome research 25 (7), 927-936, 2015
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2015 236 91.3%
Integrative pathway enrichment analysis of multivariate omics data
Nature communications 11 (1), 735, 2020
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2020 125 91.2%
Evidence of efficient stop codon readthrough in four mammalian genes
Nucleic acids research 42 (14), 8928-8938, 2014
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2014 227 90.3%
Estimating the causal tissues for complex traits and diseases
Nature genetics 49 (12), 1676-1683, 2017
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2017 181 90.2%
RFECS: a random-forest based algorithm for enhancer identification from chromatin state
PLoS computational biology 9 (3), e1002968, 2013
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2013 238 90.1%
Deep learning for regulatory genomics
Nature biotechnology 33 (8), 825-826, 2015
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2015 208 90.0%
Comparative analysis of regulatory information and circuits across distant species
Nature 512 (7515), 453-456, 2014
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2014 218 89.9%
The Tasmanian devil transcriptome reveals Schwann cell origins of a clonally transmissible cancer
Science 327 (5961), 84-87, 2010
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2010 281 89.8%
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals
Nature communications 9 (1), 3391, 2018
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2018 161 89.8%
Evidence of abundant purifying selection in humans for recently acquired regulatory functions
Science 337 (6102), 1675-1678, 2012
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2012 246 89.7%
Transcriptomic signatures across human tissues identify functional rare genetic variation
Science 369 (6509), eaaz5900, 2020
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2020 107 89.6%
A wealth of discovery built on the Human Genome Project—by the numbers
Nature 590 (7845), 212-215, 2021
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2021 74 89.2%
A single Hox locus in Drosophila produces functional microRNAs from opposite DNA strands
Genes & development 22 (1), 8-13, 2008
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2008 274 89.1%
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
Genome research 27 (11), 1843-1858, 2017
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2017 165 89.1%
Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases
Scientific reports 5 (1), 15145, 2015
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2015 191 88.9%
Human primordial germ cells are specified from lineage-primed progenitors
Cell reports 29 (13), 4568-4582. e5, 2019
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2019 121 88.9%
Survey of variation in human transcription factors reveals prevalent DNA binding changes
Science 351 (6280), 1450-1454, 2016
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2016 169 88.5%
Evolution of delayed resistance to immunotherapy in a melanoma responder
Nature medicine 27 (6), 985-992, 2021
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2021 70 88.5%
Evidence of abundant stop codon readthrough in Drosophila and other metazoa
Genome research 21 (12), 2096-2113, 2011
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2011 233 88.4%
Sharing and specificity of co-expression networks across 35 human tissues
PLoS computational biology 11 (5), e1004220, 2015
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2015 180 88.2%
Efficient algorithms for the reconciliation problem with gene duplication, horizontal transfer and loss
Bioinformatics 28 (12), i283-i291, 2012
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2012 212 87.9%
Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions
Nature biotechnology 34 (11), 1180-1190, 2016
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2016 160 87.8%
Mapping the epigenomic and transcriptomic interplay during memory formation and recall in the hippocampal engram ensemble
Nature neuroscience 23 (12), 1606-1617, 2020
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2020 93 87.7%
Survey of the heritability and sparse architecture of gene expression traits across human tissues
PLoS genetics 12 (11), e1006423, 2016
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2016 157 87.6%
Genus-wide characterization of bumblebee genomes provides insights into their evolution and variation in ecological and behavioral traits
Molecular biology and evolution 38 (2), 486-501, 2021
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2021 65 87.4%
High-resolution genome-wide functional dissection of transcriptional regulatory regions and nucleotides in human
Nature communications 9 (1), 5380, 2018
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2018 132 87.3%
Discovery of human sORF-encoded polypeptides (SEPs) in cell lines and tissue
Journal of proteome research 13 (3), 1757-1765, 2014
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2014 174 87.0%
Pathway and network analysis of more than 2500 whole cancer genomes
Nature communications 11 (1), 729, 2020
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2020 87 86.8%
PhenomeXcan: Mapping the genome to the phenome through the transcriptome
Science advances 6 (37), eaba2083, 2020
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2020 87 86.8%
Perspectives on ENCODE
Nature 583 (7818), 693-698, 2020
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2020 86 86.6%
Comparative validation of the D. melanogaster modENCODE transcriptome annotation
Genome research 24 (7), 1209-1223, 2014
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2014 166 86.3%
Single-cell atlas reveals correlates of high cognitive function, dementia, and resilience to Alzheimer’s disease pathology
Cell 186 (20), 4365-4385. e27, 2023
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2023 22 86.2%
The NF-κB genomic landscape in lymphoblastoid B cells
Cell reports 8 (5), 1595-1606, 2014
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2014 162 86.0%
A vast resource of allelic expression data spanning human tissues
Genome biology 21, 1-12, 2020
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2020 82 85.9%
Systematic discovery and characterization of fly microRNAs using 12 Drosophila genomes
Genome research 17 (12), 1865-1879, 2007
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2007 223 85.9%
Spatial expression of transcription factors in Drosophilaembryonic organ development
Genome biology 14 (12), 1-15, 2013
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2013 169 85.5%
Unified modeling of gene duplication, loss, and coalescence using a locus tree
Genome research 22 (4), 755-765, 2012
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2012 179 85.4%
Reliable prediction of regulator targets using 12 Drosophila genomes
Genome research 17 (12), 1919-1931, 2007
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2007 216 85.4%
Genetic drivers of m6A methylation in human brain, lung, heart and muscle
Nature genetics 53 (8), 1156-1165, 2021
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2021 56 85.2%
High-throughput 5′ UTR engineering for enhanced protein production in non-viral gene therapies
Nature communications 12 (1), 4138, 2021
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2021 55 84.9%
Single-cell dissection of schizophrenia reveals neurodevelopmental-synaptic link and transcriptional resilience associated cellular state
Biological psychiatry 89 (9), S106, 2021
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2021 55 84.9%
NEBULA is a fast negative binomial mixed model for differential or co-expression analysis of large-scale multi-subject single-cell data
Communications biology 4 (1), 629, 2021
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2021 54 84.6%
52 genetic loci influencing myocardial mass
Journal of the American College of Cardiology 68 (13), 1435-1448, 2016
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2016 125 84.1%
Challenges in IBD research: environmental triggers
Inflammatory bowel diseases 25 (Supplement_2), S13-S23, 2019
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2019 86 84.1%
Improved identification and analysis of small open reading frame encoded polypeptides
Analytical chemistry 88 (7), 3967-3975, 2016
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2016 123 83.9%
Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx
Genome biology 21, 1-20, 2020
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2020 71 83.7%
Single-cell dissection of the obesity-exercise axis in adipose-muscle tissues implies a critical role for mesenchymal stem cells
Cell metabolism 34 (10), 1578-1593. e6, 2022
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2022 31 83.2%
Human microglial state dynamics in Alzheimer’s disease progression
Cell 186 (20), 4386-4403. e29, 2023
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2023 18 83.1%
Analyses of mRNA structure dynamics identify embryonic gene regulatory programs
Nature structural & molecular biology 25 (8), 677-686, 2018
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2018 97 82.7%
A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane
Proceedings of the National Academy of Sciences 119 (35), e2205425119, 2022
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2022 30 82.6%
Deep coverage whole genome sequences and plasma lipoprotein (a) in individuals of European and African ancestries
Nature communications 9 (1), 2606, 2018
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2018 94 82.2%
Position specific variation in the rate of evolution in transcription factor binding sites
BMC evolutionary biology 3 (1), 1-13, 2003
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2003 204 82.2%
Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures
elife 5, e10557, 2016
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2016 110 82.0%
Genome-wide in vivo CNS screening identifies genes that modify CNS neuronal survival and mHTT toxicity
Neuron 106 (1), 76-89. e8, 2020
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2020 64 81.8%
Revisiting the protein-coding gene catalog of Drosophila melanogaster using 12 fly genomes
Genome research 17 (12), 1823-1836, 2007
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2007 173 81.7%
Three periods of regulatory innovation during vertebrate evolution
science 333 (6045), 1019-1024, 2011
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2011 148 81.3%
Conflicting and ambiguous names of overlapping ORFs in the SARS-CoV-2 genome: A homology-based resolution
Virology 558, 145-151, 2021
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2021 45 81.3%
Predictive regulatory models in Drosophila melanogaster by integrative inference of transcriptional networks
Genome research 22 (7), 1334-1349, 2012
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2012 139 81.1%
Dynamics of the epigenetic landscape during erythroid differentiation after GATA1 restoration
Genome research 21 (10), 1659-1671, 2011
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2011 146 81.1%
Single-nucleus multiregion transcriptomic analysis of brain vasculature in Alzheimer’s disease
Nature Neuroscience, 1-13, 2023
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2023 16 81.0%
Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci
Science 361 (6409), eaar3146, 2018
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2018 88 81.0%
Core and region-enriched networks of behaviorally regulated genes and the singing genome
Science 346 (6215), 1256780, 2014
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2014 118 80.4%
Inferring multimodal latent topics from electronic health records
Nature communications 11 (1), 2536, 2020
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2020 59 80.3%
TreeFix: statistically informed gene tree error correction using species trees
Systematic biology 62 (1), 110-120, 2013
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2013 122 79.9%
Intermediate DNA methylation is a conserved signature of genome regulation
Nature communications 6 (1), 6363, 2015
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2015 105 79.4%
RNA folding with soft constraints: reconciliation of probing data and thermodynamic secondary structure prediction
Nucleic acids research 40 (10), 4261-4272, 2012
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2012 126 79.2%
A Bayesian approach for fast and accurate gene tree reconstruction
Molecular Biology and Evolution 28 (1), 273-290, 2011
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2011 132 79.2%
Linking DNA methyltransferases to epigenetic marks and nucleosome structure genome-wide in human tumor cells
Cell reports 2 (5), 1411-1424, 2012
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2012 123 78.8%
Interplay between chromatin state, regulator binding, and regulatory motifs in six human cell types
Genome research 23 (7), 1142-1154, 2013
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2013 114 78.6%
Neurons burdened by DNA double-strand breaks incite microglia activation through antiviral-like signaling in neurodegeneration
Science Advances 8 (39), eabo4662, 2022
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2022 24 78.3%
BACE-1 inhibition facilitates the transition from homeostatic microglia to DAM-1
Science Advances 8 (24), eabo1286, 2022
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2022 24 78.3%
New families of human regulatory RNA structures identified by comparative analysis of vertebrate genomes
Genome research 21 (11), 1929-1943, 2011
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2011 126 78.3%
Soft X-ray tomography reveals gradual chromatin compaction and reorganization during neurogenesis in vivo
Cell reports 17 (8), 2125-2136, 2016
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2016 90 77.9%
PTWAS: investigating tissue-relevant causal molecular mechanisms of complex traits using probabilistic TWAS analysis
Genome biology 21, 1-26, 2020
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2020 52 77.8%
Analysis of variation at transcription factor binding sites in Drosophila and humans
Genome biology 13, 1-15, 2012
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2012 115 77.4%
MEF2 is a key regulator of cognitive potential and confers resilience to neurodegeneration
Science translational medicine 13 (618), eabd7695, 2021
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2021 37 77.4%
Epigenomic dissection of Alzheimer’s disease pinpoints causal variants and reveals epigenome erosion
Cell 186 (20), 4422-4437. e21, 2023
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2023 13 76.8%
Transcriptional vulnerabilities of striatal neurons in human and rodent models of Huntington’s disease
Nature Communications 14 (1), 282, 2023
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2023 13 76.8%
Assessing allele-specific expression across multiple tissues from RNA-seq read data
Bioinformatics 31 (15), 2497-2504, 2015
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2015 91 76.4%
Reconstruction of cell-type-specific interactomes at single-cell resolution
Cell systems 9 (6), 559-568. e4, 2019
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2019 56 75.6%
RANGER-DTL 2.0: rigorous reconstruction of gene-family evolution by duplication, transfer and loss
Bioinformatics 34 (18), 3214-3216, 2018
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2018 66 75.3%
Methods in comparative genomics: genome correspondence, gene identification and regulatory motif discovery
Journal of Computational Biology 11 (2-3), 319-355, 2004
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2004 134 75.3%
Elucidation of codon usage signatures across the domains of life
Molecular Biology and Evolution 36 (10), 2328-2339, 2019
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2019 55 75.2%
Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration
Cell 186 (20), 4404-4421. e20, 2023
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2023 12 75.0%
Analysis of genetically regulated gene expression identifies a prefrontal PTSD gene, SNRNP35, specific to military cohorts
Cell reports 31 (9), 2020
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2020 46 75.0%
Stop codon readthrough generates a C-terminally extended variant of the human vitamin D receptor with reduced calcitriol response
Journal of Biological Chemistry 293 (12), 4434-4444, 2018
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2018 65 75.0%
Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci
Genome Research 29 (12), 2073-2087, 2019
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2019 54 74.8%
Joint Bayesian inference of risk variants and tissue-specific epigenomic enrichments across multiple complex human diseases
Nucleic acids research 44 (18), e144-e144, 2016
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2016 78 74.7%
Thousands of novel unannotated proteins expand the MHC I immunopeptidome in cancer
Biorxiv, 2020.02. 12.945840, 2020
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2020 45 74.5%
Translation initiation site profiling reveals widespread synthesis of non-AUG-initiated protein isoforms in yeast
Cell systems 11 (2), 145-160. e5, 2020
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2020 45 74.5%
Evolutionary principles of modular gene regulation in yeasts
Elife 2, e00603, 2013
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2013 92 74.0%
Plasma-derived extracellular vesicle analysis and deconvolution enable prediction and tracking of melanoma checkpoint blockade outcome
Science Advances 6 (46), eabb3461, 2020
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2020 43 73.5%
Accurate gene-tree reconstruction by learning gene-and species-specific substitution rates across multiple complete genomes
Genome research 17 (12), 1932-1942, 2007
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2007 109 72.9%
Locating protein-coding sequences under selection for additional, overlapping functions in 29 mammalian genomes
Genome Research 21 (11), 1916-1928, 2011
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2011 97 72.8%
Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival
NPJ genomic medicine 3 (1), 1, 2018
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2018 59 72.8%
Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis
Genome research 27 (11), 1859-1871, 2017
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2017 64 72.0%
SubMAP: aligning metabolic pathways with subnetwork mappings
Journal of computational biology 18 (3), 219-235, 2011
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2011 91 71.4%
A high-throughput screening and computation platform for identifying synthetic promoters with enhanced cell-state specificity (SPECS)
Nature communications 10 (1), 2880, 2019
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2019 46 70.9%
SARS-CoV-2 variants evolve convergent strategies to remodel the host response
Cell 186 (21), 4597-4614. e26, 2023
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2023 10 70.6%
A multiresolution framework to characterize single-cell state landscapes
Nature communications 11 (1), 5399, 2020
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2020 38 70.6%
Combined burden and functional impact tests for cancer driver discovery using DriverPower
Nature communications 11 (1), 734, 2020
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2020 38 70.6%
PRC2 is required to maintain expression of the maternal Gtl2-Rian-Mirg locus by preventing de novo DNA methylation in mouse embryonic stem cells
Cell reports 12 (9), 1456-1470, 2015
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2015 71 70.6%
Spectral alignment of graphs
IEEE Transactions on Network Science and Engineering 7 (3), 1182-1197, 2019
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2019 45 70.3%
An AR-ERG transcriptional signature defined by long-range chromatin interactomes in prostate cancer cells
Genome research 29 (2), 223-235, 2019
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2019 45 70.3%
Most parsimonious reconciliation in the presence of gene duplication, loss, and deep coalescence using labeled coalescent trees
Genome research 24 (3), 475-486, 2014
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2014 72 69.3%
Systematic chromatin state comparison of epigenomes associated with diverse properties including sex and tissue type
Nature communications 6 (1), 7973, 2015
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2015 66 68.7%
Improved gene tree error correction in the presence of horizontal gene transfer
Bioinformatics 31 (8), 1211-1218, 2015
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2015 64 68.0%
Exercise training remodels inguinal white adipose tissue through adaptations in innervation, vascularization, and the extracellular matrix
Cell reports 42 (4), 2023
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2023 9 67.9%
Reconciliation revisited: Handling multiple optima when reconciling with duplication, transfer, and loss
Journal of Computational Biology 20 (10), 738-754, 2013
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2013 71 67.9%
Single-cell profiling of the human primary motor cortex in ALS and FTLD
bioRxiv, 2021.07. 07.451374, 2021
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2021 25 67.8%
Chromatin accessibility impacts transcriptional reprogramming in oocytes
Cell reports 24 (2), 304-311, 2018
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2018 48 67.6%
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities
The American Journal of Human Genetics 91 (6), 1128-1134, 2012
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2012 73 67.0%
Evolutionary dynamics of abundant stop codon readthrough
Molecular biology and evolution 33 (12), 3108-3132, 2016
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2016 55 66.3%
Computational analysis of noncoding RNAs
Wiley Interdisciplinary Reviews: RNA 3 (6), 759-778, 2012
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2012 68 65.3%
Evidence for a novel overlapping coding sequence in POLG initiated at a CUG start codon
BMC genetics 21, 1-16, 2020
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2020 31 65.2%
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
Nature genetics 52 (11), 1145-1150, 2020
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2020 31 65.2%
Alzheimer's loci: epigenetic associations and interaction with genetic factors
Annals of clinical and translational neurology 2 (6), 636-647, 2015
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2015 57 65.0%
Arboretum: reconstruction and analysis of the evolutionary history of condition-specific transcriptional modules
Genome Research 23 (6), 1039-1050, 2013
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2013 62 64.6%
Pareto-optimal phylogenetic tree reconciliation
Bioinformatics 30 (12), i87-i95, 2014
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2014 60 64.6%
Conserved epigenetic regulatory logic infers genes governing cell identity
Cell systems 11 (6), 625-639. e13, 2020
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2020 30 64.4%
Discovery and characterization of coding and non-coding driver mutations in more than 2,500 whole cancer genomes
BioRxiv, 237313, 2017
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2017 47 64.0%
The evolutionary dynamics of the Saccharomyces cerevisiae protein interaction network after duplication
Proceedings of the National Academy of Sciences 105 (3), 950-954, 2008
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2008 72 63.8%
FTO Obesity Variant and Adipocyte Browning in Humans.
The New England journal of medicine 374 (2), 192-193, 2016
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2016 50 63.8%
Information-Theoretic Inference of Gene Networks Using Backward Elimination.
BioComp, 700-705, 2010
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2010 67 63.2%
Multi-scale chromatin state annotation using a hierarchical hidden Markov model
Nature Communications 8 (1), 15011, 2017
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2017 45 62.9%
Predicting gene expression in massively parallel reporter assays: A comparative study
Human mutation 38 (9), 1240-1250, 2017
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2017 45 62.9%
Phylogenetically and spatially conserved word pairs associated with gene expression changes in yeasts
Proceedings of the seventh annual international conference on Research in …, 2003
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2003 71 61.8%
Human brain region-specific variably methylated regions are enriched for heritability of distinct neuropsychiatric traits
Genome biology 22 (1), 116, 2021
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2021 20 61.6%
Evolution at the Subgene Level: Domain Rearrangements in the Drosophila Phylogeny
Molecular biology and evolution 29 (2), 689-705, 2012
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2012 57 60.8%
Performance and Scalability of Discriminative Metrics for Comparative Gene Identification in 12 Drosophila Genomes
PLoS computational biology 4 (4), e1000067, 2008
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2008 63 60.7%
Evidence of reduced recombination rate in human regulatory domains
Genome biology 18 (1), 1-11, 2017
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2017 41 60.5%
Integrating tissue specific mechanisms into GWAS summary results
BioRxiv, 045260, 2017
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2017 40 59.9%
Integrating and mining the chromatin landscape of cell-type specificity using self-organizing maps
Genome research 23 (12), 2136-2148, 2013
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2013 50 59.0%
Optimization of parameters for coverage of low molecular weight proteins
Analytical and bioanalytical chemistry 398, 2867-2881, 2010
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2010 55 58.5%
Conservation of small RNA pathways in platypus
Genome Research 18 (6), 995-1004, 2008
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2008 57 58.4%
MicroRNA and gene expression changes in unruptured human cerebral aneurysms
Journal of neurosurgery 125 (6), 1390-1399, 2016
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2016 41 58.4%
Context influences on TALE–DNA binding revealed by quantitative profiling
Nature communications 6 (1), 7440, 2015
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2015 44 58.1%
FRESCo: finding regions of excess synonymous constraint in diverse viruses
Genome biology 16, 1-14, 2015
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2015 43 57.5%
Network infusion to infer information sources in networks
IEEE Transactions on Network Science and Engineering 6 (3), 402-417, 2018
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2018 32 56.8%
Distinct and predictive histone lysine acetylation patterns at promoters, enhancers, and gene bodies
G3: Genes, Genomes, Genetics 4 (11), 2051-2063, 2014
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2014 44 56.6%
The ENCODE Imputation Challenge: a critical assessment of methods for cross-cell type imputation of epigenomic profiles
Genome biology 24 (1), 79, 2023
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2023 6 56.2%
Interleukin-6 deficiency exacerbates Huntington’s disease model phenotypes
Molecular neurodegeneration 15, 1-8, 2020
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2020 22 55.9%
Spectral alignment of networks
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2015 40 55.6%
Discovery of genetic variation on chromosome 5q22 associated with mortality in heart failure
PLoS genetics 12 (5), e1006034, 2016
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2016 36 54.7%
Expanded encyclopaedias of DNA elements in the human and mouse genomes
Nature 583 (7818), 699-710, 2020
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2020 21 54.6%
sn-spMF: matrix factorization informs tissue-specific genetic regulation of gene expression
Genome biology 21, 1-25, 2020
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2020 21 54.6%
Mathematical analysis of Córdoba calcifediol trial suggests strong role for Vitamin D in reducing ICU admissions of hospitalized COVID-19 patients
MedRxiv, 2020.11. 08.20222638, 2020
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2020 21 54.6%
Error and error mitigation in low-coverage genome assemblies
PloS one 6 (2), e17034, 2011
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2011 45 54.4%
Widespread dose-dependent effects of RNA expression and splicing on complex diseases and traits
BioRxiv, 814350, 2019
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2019 25 54.2%
A systematic survey of human tissue-specific gene expression and splicing reveals new opportunities for therapeutic target identification and evaluation
BioRxiv, 311563, 2018
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2018 28 53.2%
Motif discovery in physiological datasets: a methodology for inferring predictive elements
ACM Transactions on Knowledge Discovery from Data (TKDD) 4 (1), 1-23, 2010
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2010 43 52.9%
A synthetic transcription platform for programmable gene expression in mammalian cells
Nature Communications 13 (1), 6167, 2022
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2022 9 51.7%
Improved haplotype inference by exploiting long-range linking and allelic imbalance in RNA-seq datasets
Nature communications 11 (1), 4662, 2020
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2020 19 51.6%
Perspectives on ENCODE
Nature 583 (7818), 693-699, 2020
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2020 19 51.6%
Diverse patterns of genomic targeting by transcriptional regulators in Drosophila melanogaster
Genome research 24 (7), 1224-1235, 2014
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2014 35 50.8%
Single-nucleus transcriptome profiling of dorsolateral prefrontal cortex: mechanistic roles for neuronal gene expression, including the 17q21. 31 locus, in PTSD stress response
American Journal of Psychiatry 180 (10), 739-754, 2023
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2023 5 50.7%
Sarbecovirus comparative genomics elucidates gene content of SARS-CoV-2 and functional impact of COVID-19 pandemic mutations
bioRxiv, 2020.06. 02.130955, 2020
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2020 18 50.1%
A gene expression atlas of embryonic neurogenesis in Drosophila reveals complex spatiotemporal regulation of lncRNAs
Development 146 (6), dev175265, 2019
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2019 21 49.5%
Target site specificity and in vivo complexity of the mammalian arginylome
Scientific reports 8 (1), 16177, 2018
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2018 24 48.9%
Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Translational psychiatry 11 (1), 146, 2021
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2021 13 48.8%
Inter-tissue coexpression network analysis reveals DPP4 as an important gene in heart to blood communication
Genome medicine 8, 1-15, 2016
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2016 28 48.1%
Global landscape of the host response to SARS-CoV-2 variants reveals viral evolutionary trajectories
bioRxiv, 2022.10. 19.512927, 2022
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2022 8 48.0%
Erratum: Genetic effects on gene expression across human tissues
Nature 553 (7689), 530-530, 2018
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2018 23 47.8%
Genie: a secure, transparent sharing and services platform for genetic and health data
arXiv preprint arXiv:1811.01431, 2018
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2018 22 46.7%
CoCoA-diff: counterfactual inference for single-cell gene expression analysis
Genome Biology 22 (1), 1-23, 2021
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2021 12 46.4%
Single-cell deconvolution of 3,000 post-mortem brain samples for eQTL and GWAS dissection in mental disorders
BioRxiv, 2021.01. 21.426000, 2021
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2021 12 46.4%
Single-cell dissection of the human cerebrovasculature in health and disease
bioRxiv, 2021.04. 26.440975, 2021
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2021 12 46.4%
Single-cell multi-cohort dissection of the schizophrenia transcriptome
medRxiv, 2022.08. 31.22279406, 2022
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2022 7 44.1%
Single-cell anatomical analysis of human hippocampus and entorhinal cortex uncovers early-stage molecular pathology in Alzheimer’s disease
bioRxiv, 2021.07. 01.450715, 2021
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2021 11 43.8%
Few SINEs of life: Alu elements have little evidence for biological relevance despite elevated translation
NAR Genomics and Bioinformatics 2 (1), lqz023, 2020
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2020 14 43.1%
Rate of brain aging and APOE ε4 are synergistic risk factors for Alzheimer’s disease
Life science alliance 2 (3), 2019
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2019 16 42.3%
Response to comment on “Evidence of abundant purifying selection in humans for recently acquired regulatory functions”
Science 340 (6133), 682-682, 2013
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2013 25 42.2%
Type 1 diabetes genetics C, Todd JA, Wallace C, Concannon P, rich SS. fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers
Nat Genet 47, 381-6, 2015
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2015 23 41.8%
Interpreting non-coding variation in complex disease genetics
Nature biotechnology 30 (11), 1095, 2012
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2012 25 41.5%
Loss of LDAH associated with prostate cancer and hearing loss
Human molecular genetics 27 (24), 4194-4203, 2018
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2018 17 40.1%
Single-cell multi-region dissection of brain vasculature in Alzheimer’s Disease
Biorxiv, 2022.02. 09.479797, 2022
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2022 6 39.4%
Diverse transcriptomic signatures across human tissues identify functional rare genetic variation
BioRxiv, 786053, 2019
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2019 14 39.0%
Multi-tissue polygenic models for transcriptome-wide association studies
bioRxiv, 107623, 2017
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2017 17 38.0%
Diversifying sparsity using variational determinantal point processes
arXiv preprint arXiv:1411.6307, 2014
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2014 19 37.0%
Network maximal correlation
IEEE Transactions on Network Science and Engineering 4 (4), 229-247, 2017
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2017 16 36.8%
Nearly all new protein-coding predictions in the CHESS database are not protein-coding
bioRxiv, 360602, 2018
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2018 14 35.6%
Long non-coding RNA gene regulation and trait associations across human tissues
bioRxiv, 793091, 2019
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2019 12 35.4%
Computational comparative genomics: genes, regulation, evolution
Massachusetts Institute of Technology, 2003
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2003 16 35.4%
Whole-genome comparative annotation and regulatory motif discovery in multiple yeast species
Proceedings of the seventh annual international conference on Research in …, 2003
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2003 16 35.4%
Convergence of dispersed regulatory mutations predicts driver genes in prostate cancer
BioRxiv, 097451, 2016
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2016 16 35.2%
Alternatives to amyloid for Alzheimer's disease therapies—a symposium report
Annals of the New York Academy of Sciences 1475 (1), 3-14, 2020
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2020 10 34.4%
Predicting molecular mechanisms of hereditary diseases by using their tissue‐selective manifestation
Molecular Systems Biology, e11407, 2023
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2023 3 34.3%
High depth, whole-genome sequencing of cholera isolates from Haiti and the Dominican Republic
BMC genomics 13 (1), 1-12, 2012
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2012 17 34.0%
Best practices for genome-wide RNA structure analysis: combination of mutational profiles and drop-off information
biorxiv, 176883, 2017
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2017 14 34.0%
Reply to Brunet and Doolittle: Both selected effect and causal role elements can influence human biology and disease
Proceedings of the National Academy of Sciences 111 (33), E3366-E3366, 2014
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2014 15 32.5%
Modeling prediction error improves power of transcriptome-wide association studies
BioRxiv, 108316, 2017
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2017 13 32.4%
CCmed: cross-condition mediation analysis for identifying robust trans-eQTLs and assessing their effects on human traits
bioRxiv, 803106, 2019
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2019 10 31.5%
Spectral alignment of graphs
arXiv preprint arXiv:1602.04181, 2016
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2016 13 31.1%
Distant regulatory effects of genetic variation in multiple human tissues
BioRxiv, 074419, 2016
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2016 13 31.1%
Genetic effects on gene expression across human tissues
Nature 550 (7675), 204-213, 2017
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2017 12 30.8%
A Bayesian approach to mediation analysis predicts 206 causal target genes in Alzheimer’s disease
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2017 12 30.8%
SwiSpot: modeling riboswitches by spotting out switching sequences
Bioinformatics 32 (21), 3252-3259, 2016
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2016 12 29.6%
RiVIERA-MT: A Bayesian model to infer risk variants in related traits using summary statistics and functional genomic annotations
bioRxiv, 059345, 2016
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2016 12 29.6%
The impact of sex on gene expression across human tissues
Science 369 (6509), eaba3066, 2020
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2020 8 29.3%
Predixcan: Trait mapping using human transcriptome regulation
BioRxiv, 020164, 2015
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2015 12 28.8%
Phylogenetic identification and functional characterization of orthologs and paralogs across human, mouse, fly, and worm
Biorxiv, 005736, 2014
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2014 12 28.6%
Correction: Evolutionary principles of modular gene regulation in yeasts
Elife 2, e01114, 2013
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2013 11 27.1%
Integrative analysis of 10,000 epigenomic maps across 800 samples for regulatory genomics and disease dissection
BioRxiv, 810291, 2019
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2019 8 27.0%
Imagina: a cognitive abstraction approach to sketch-based image retrieval
Massachusetts Institute of Technology, 1999
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1999 9 26.8%
The GENCODE human gene set
Genome Biology 11 (1), 1-1, 2010
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2010 10 26.3%
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes (vol 19, pg 1316, 2009)
Genome Research 19 (8), 1506-1506, 2009
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2009 9 25.8%
ncdDetect2: improved models of the site-specific mutation rate in cancer and driver detection with robust significance evaluation
Bioinformatics 35 (2), 189-199, 2019
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2019 7 24.7%
Multi-resolution single-cell state characterization via joint archetypal/network analysis
BioRxiv, 746339, 2019
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2019 7 24.7%
Heterologous stop codon readthrough of metazoan readthrough candidates in yeast
PLoS One 8 (3), e59450, 2013
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2013 9 24.2%
Publisher Correction: N6-methyladenosine RNA modification regulates embryonic neural stem cell self-renewal through histone modifications
Nature Neuroscience 21 (8), 1139-1139, 2018
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2018 7 22.7%
DECODE-ing sparsity patterns in single-cell RNA-seq
bioRxiv, 241646, 2018
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2018 7 22.7%
Thompson DJ
Helgason H., Chasman DI, Finucane H., Sulem P., Ruth KS, Whalen S., Sarkar …, 2017
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2017 7 21.8%
Engineered 3D Immuno-Glial-Neurovascular Human Brain Model
bioRxiv, 2023.08. 15.553453, 2023
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2023 2 21.2%
Multi-bus: An algorithm for resolving multi-species gene correspondence and gene family relationships
CSAIL Research, 2005
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2005 6 21.0%
Large-scale discovery and validation of functional elements in the human genome
Genome Biology 6, 1-2, 2005
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2005 6 21.0%
Functional enrichments of disease variants across thousands of independent loci in eight diseases
BioRxiv, 048066, 2016
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2016 7 20.9%
Enhancer reprogramming in melanoma immune checkpoint therapy resistance
bioRxiv, 2022.08. 31.506051, 2022
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2022 3 20.7%
Single-cell mosaicism analysis reveals cell-type-specific somatic mutational burden in Alzheimer’s dementia
bioRxiv, 2022.04. 21.489103, 2022
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2022 3 20.7%
Death by round numbers and sharp thresholds: How to avoid dangerous ai ehr recommendations
medRxiv, 2022
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2022 3 20.7%
Correction: Corrigendum: Landscape of X chromosome inactivation across human tissues
Nature 555 (7695), 274-274, 2018
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2018 6 20.4%
PhyloCSF: a comparative genomics method to distinguish protein-coding and non-coding regions
Nature Precedings, 1-1, 2010
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2010 6 19.4%
Leveraging single-cell ATAC-seq to identify disease-critical fetal and adult brain cell types
bioRxiv, 2021.05. 20.445067, 2021
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2021 4 19.1%
Author correction: reconstruction of the human blood–brain barrier in vitro reveals a pathogenic mechanism of APOE4 in pericytes
Nature Medicine 27 (2), 356-356, 2021
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2021 4 19.1%
Single-nucleus transcriptomic dissection of PTSD and MDD in human post-mortem DLPFC reveals genetic and environmental regulation
Biological Psychiatry 89 (9), S71, 2021
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2021 4 19.1%
Integrative construction of regulatory region networks in 127 human reference epigenomes by matrix factorization
Nucleic acids research 47 (14), 7235-7246, 2019
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2019 5 19.0%
Despacio-‐Reyes G
Saunders G, Steward C, Harte R, Lin M, Howald C, Tanzer A, Derrien T, Chrast …, 2012
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2012 6 18.9%
P4‐126: Genome‐wide exploration of DNA methylation in the aging brain and its relation to Alzheimer's disease
Alzheimer's & Dementia 8 (4S_Part_18), P675-P676, 2012
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2012 6 18.9%
Corrigendum: Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases
Scientific Reports 6, 2016
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2016 6 18.8%
A perspective on future research directions in information theory
arXiv preprint arXiv:1507.05941, 2015
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2015 5 16.4%
Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35
bioRxiv, 581124, 2019
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2019 4 15.9%
Genome-wide regulatory model from MPRA data predicts functional regions, eQTLs, and GWAS hits
Biorxiv, 110171, 2017
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2017 4 14.5%
Identify tissue-of-origin in cancer cfDNA by whole genome sequencing
Cancer Research 77 (13_Supplement), 5689-5689, 2017
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2017 4 14.5%
14 Phylogenomic Approach to the Evolutionary Dynamics of Gene Duplication in Birds
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2010 4 14.5%
Energy-based RNA consensus secondary structure prediction in multiple sequence alignments
RNA Sequence, Structure, and Function: Computational and Bioinformatic …, 2014
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2014 4 13.7%
Computational Biology: Genomes, Networks, Evolution
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2016 4 13.7%
Genus-wide characterization of bumblebee genomes reveals variation associated with key ecological and behavioral traits of pollinators
bioRxiv, 2020.05. 29.122879, 2020
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2020 3 12.4%
Conflicting and ambiguous names of overlapping ORFs in SARS-CoV-2: A homology-based resolution
MDPI AG, 2020
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2020 3 12.4%
Single-cell transcriptomic atlas of the human retina identifies cell types associated with age-related macular degeneration
Springer Science and Business Media LLC, 2019
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2019 3 12.2%
Causal Mediation Analysis Leveraging Multiple Types of Summary Statistics Data
arXiv preprint arXiv:1901.08540, 2019
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2019 3 12.2%
Immune genes outside immune cells for multiple sclerosis
Neuron 110 (7), 1090-1092, 2022
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2022 2 11.9%
Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes
Nature 605 (7909), E3-E3, 2022
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2022 2 11.9%
Abstract A35: BRAF inhibition increases exosomal PD-L1 protein expression in melanoma
Cancer Immunology Research 6 (9_Supplement), A35-A35, 2018
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2018 3 11.4%
Simultaneous profiling of DNA methylation and chromatin architecture in mixed populations and in single cells
bioRxiv, 470963, 2018
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2018 3 11.4%
N-6-methyladenosine RNA modification regulates embryonic neural stem cell self-renewal through histone modifications (vol 21, pg 195, 2018)
NATURE NEUROSCIENCE 21 (8), 1139-1139, 2018
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2018 3 11.4%
Causal gene inference by multivariate mediation analysis in Alzheimer's disease
bioRxiv, 219428, 2017
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2017 3 11.2%
Preface: Recomb systems biology, regulatory genomics, and dream 2011 special issue
Journal of computational biology: a journal of computational molecular cell …, 2012
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2012 3 10.8%
Large-scale epigenome imputation improves data quality and disease variant enrichment
Nature biotechnology 33 (4), 364, 2015
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2015 3 10.6%
Single-cell dissection of live human hearts in ischemic heart disease and heart failure reveals cell-type-specific driver genes and pathways
BioRxiv, 2021.06. 23.449672, 2021
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2021 2 8.2%
Single-cell dissection of obesity-exercise axis in adipose-muscle tissues
bioRxiv, 2021.11. 22.469622, 2021
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2021 2 8.2%
Structural variant selection for high-altitude adaptation using single-molecule long-read sequencing
bioRxiv, 2021.03. 27.436702, 2021
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2021 2 8.2%
A tissue-aware machine learning framework enhances the mechanistic understanding and genetic diagnosis of Mendelian and rare diseases
bioRxiv, 2021.02. 16.430825, 2021
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2021 2 8.2%
Plasma and exosome proteomic profiling for prediction of immunotherapy response and toxicity
Cancer Research 79 (13_Supplement), 4533-4533, 2019
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2019 2 7.3%
Mechanisms of tissue-specific genetic regulation revealed by latent factors across eQTLs
BioRxiv, 785584, 2019
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2019 2 7.3%
Plasma-derived exosomal analysis and deconvolution enables prediction and tracking of melanoma checkpoint blockade response
bioRxiv, 809699, 2019
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2019 2 7.3%
Compositions and methods for manipulation of adipocyte energy consumption regulatory pathway
US Patent 10,774,326, 2020
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2020 2 7.2%
A latent topic model for mining heterogenous non-randomly missing electronic health records data
arXiv preprint arXiv:1811.00464, 2018
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2018 2 6.9%
The changing face of genomics
Genome Biology 5 (5), 1-3, 2004
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2004 2 6.8%
Anal. Bioanal. Chem
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2010 2 6.6%
Multi-tissue transcriptome analysis in a population sample: the Genotype-Tissue Expression (GTEx) pilot study
submitted, 2015
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2015 2 6.4%
Computational analysis of noncoding RNAs
WIREs RNA, 2012
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2012 2 6.3%
Saccharomyces comparative genomics: Genes, regulatory motifs, and genome evolution.
Yeast 20, S282-S282, 2003
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2003 1 0.0%
GENCODE: creating a validated manually annotated geneset for the whole human genome
Nature Precedings, 1-1, 2009
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2009 1 0.0%
GeneNetWeaver 3.0: Realistic benchmark generation and performance profiling of network inference methods
3rd Annual Joint Conference on Systems Biology, Regulatory Genomics, and …, 2010
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2010 1 0.0%
Sequences to systems
Genome biology 11 (5), 1-3, 2010
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2010 1 0.0%
RECOMB Conference on systems biology, regulatory genomics, and DREAM Challenges 2010 special issue
Journal of Computational Biology 18 (2), 131-132, 2011
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2011 1 0.0%
Integrating and mining the chromatin landscape of cell-type specificity using self-organizing maps
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2013 1 0.0%
Systematic integration of computational approaches and validation experiments reveals functionality beyond GWAS signals and identifies ADCY5 as having genetic pleiotropy for Bone Mineral Density and Type 2 Diabetes.
JOURNAL OF BONE AND MINERAL RESEARCH 29, S70-S70, 2014
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2014 1 0.0%
RECOMB/ISCB Systems Biology, Regulatory Genomics, and DREAM 2013 Special Issue
Journal of Computational Biology 21 (5), 371-372, 2014
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2014 1 0.0%
Various localized epigenetic marks predict expression across 54 samples and reveal underlying chromatin state enrichments
bioRxiv, 030478, 2015
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2015 1 0.0%
Evidence of a recombination rate valley in human regulatory domains
bioRxiv, 048827, 2016
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2016 1 0.0%
Normal tissue and data resources for cancer research from the GTEx program
Cancer Research 76 (14_Supplement), 4500-4500, 2016
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2016 1 0.0%
Deconvolution of plasma-derived exosomes for tracking and prediction of immunotherapy across multiple tissues
Cancer Research 78 (13_Supplement), 4282-4282, 2018
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2018 1 0.0%
mRNA structure dynamics identifies the embryonic RNA regulome
bioRxiv, 274290, 2018
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2018 1 0.0%
Single-cell interactomes of the human brain reveal cell-type specific convergence of brain disorders
bioRxiv, 586859, 2019
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2019 1 0.0%
A multiresolution framework to characterize single-cell state landscapes
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2019 1 0.0%
Epigenomic correlates of checkpoint blockade immunotherapy resistance
Cancer Research 79 (13_Supplement), 948-948, 2019
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2019 1 0.0%
Correlating predicted epigenetic marks with expression data to find interactions between SNPs and genes
bioRxiv, 2020.02. 29.970962, 2020
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2020 1 0.0%
Metabolic resilience is encoded in genome plasticity
bioRxiv, 2021.06. 25.449953, 2021
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2021 1 0.0%
Comparison of human and mouse tissues with focus on genes with no 1-to-1 homology
bioRxiv, 2021.05. 22.445250, 2021
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2021 1 0.0%
Cellular intelligence: dynamic specialization through non-equilibrium multi-scale compartmentalization
bioRxiv, 2021.06. 25.449951, 2021
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2021 1 0.0%
NOTMAD: Estimating Bayesian Networks with Sample-Specific Structures and Parameters
arXiv preprint arXiv:2111.01104, 2021
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2021 1 0.0%
Huntington’s disease produces multiplexed transcriptional vulnerabilities of striatal D1-D2 and Striosome-matrix neurons
bioRxiv, 2022.04. 25.489455, 2022
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2022 1 0.0%
QClus: Robust and reliable preprocessing method for human heart snRNA-seq
bioRxiv, 2022.10. 21.513315, 2022
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2022 1 0.0%
Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
Nature 614 (7948), E40-E40, 2023
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2023 1 0.0%
Systems and methods for crowdsourcing, analyzing, and/or matching personal data
US Patent 11,593,512, 2023
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2023 1 0.0%
Author Correction: Pan-cancer analysis of whole genomes
Nature 614 (7948), E39-E39, 2023
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2023 1 0.0%
Structural variants involved in high-altitude adaptation detected using single-molecule long-read sequencing
Nature Communications 14 (1), 8282, 2023
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2023 1 0.0%
Rabies virus-based barcoded neuroanatomy resolved by single-cell RNA and in situ sequencing
bioRxiv, 2023
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2023 1 0.0%
Multitissue H3K27ac profiling of GTEx samples links epigenomic variation to disease
Nature Genetics 55 (10), 1665-1676, 2023
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2023 1 0.0%
A single-cell atlas of ABCA7 loss-of-function reveals lipid disruptions, mitochondrial dysfunction and DNA damage in neurons
bioRxiv, 2023.09. 05.556135, 2023
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2023 1 0.0%
LLMs Understand Glass-Box Models, Discover Surprises, and Suggest Repairs
arXiv preprint arXiv:2308.01157, 2023
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2023 1 0.0%
Dissecting the tumor microenvironment in response to immune checkpoint inhibitors via single-cell and spatial transcriptomics
Clinical & Experimental Metastasis, 1-20, 2023
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2023 1 0.0%
Contextualized machine learning
arXiv preprint arXiv:2310.11340, 2023
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2023 1 0.0%
An encyclopedia of enhancer-gene regulatory interactions in the human genome
bioRxiv, 2023
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2023 1 0.0%
Antigen presenting cells in cancer immunity and mediation of immune checkpoint blockade
Clinical & Experimental Metastasis, 1-17, 2024
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2024 1 0.0%
Synthetic 5'UTR sequences, and high-throughput engineering and screening thereof
US Patent 11,875,876, 2024
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2024 1 0.0%