| # | Title | Journal | Year | Citations |
|---|
| 1 | Molecular portraits of human breast tumours | Nature | 2000 | 13,397 |
| 2 | The Genome Sequence of Drosophila melanogaster | Science | 2000 | 5,566 |
| 3 | GREAT improves functional interpretation of cis-regulatory regions | Nature Biotechnology | 2010 | 3,789 |
| 4 | Genetic effects on gene expression across human tissues | Nature | 2017 | 3,500 |
| 5 | ATAC‐seq: A Method for Assaying Chromatin Accessibility Genome‐Wide | Current Protocols in Molecular Biology | 2015 | 2,391 |
| 6 | An Expanded View of Complex Traits: From Polygenic to Omnigenic | Cell | 2017 | 2,336 |
| 7 | Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4 | Cell | 1996 | 2,287 |
| 8 | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Genetics in Medicine | 2013 | 2,186 |
| 9 | Visualizing and interpreting cancer genomics data via the Xena platform | Nature Biotechnology | 2020 | 2,069 |
| 10 | A Genome-Wide Transcriptional Analysis of the Mitotic Cell Cycle | Molecular Cell | 1998 | 1,927 |
| 11 | Single-cell chromatin accessibility reveals principles of regulatory variation | Nature | 2015 | 1,798 |
| 12 | Searching for genetic determinants in the new millennium | Nature | 2000 | 1,731 |
| 13 | Geroscience: Linking Aging to Chronic Disease | Cell | 2014 | 1,709 |
| 14 | ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia | Genome Research | 2012 | 1,708 |
| 15 | High resolution of human evolutionary trees with polymorphic microsatellites | Nature | 1994 | 1,700 |
| 16 | Saccharomyces Genome Database: the genomics resource of budding yeast | Nucleic Acids Research | 2012 | 1,649 |
| 17 | Comparative Genomics of the Eukaryotes | Science | 2000 | 1,573 |
| 18 | The Encyclopedia of DNA elements (ENCODE): data portal update | Nucleic Acids Research | 2018 | 1,559 |
| 19 | REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants | American Journal of Human Genetics | 2016 | 1,555 |
| 20 | Pharmacogenomics Knowledge for Personalized Medicine | Clinical Pharmacology and Therapeutics | 2012 | 1,549 |
| 21 | Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes | Science | 2012 | 1,535 |
| 22 | The genome sequence of Schizosaccharomyces pombe | Nature | 2002 | 1,508 |
| 23 | A comparative encyclopedia of DNA elements in the mouse genome | Nature | 2014 | 1,444 |
| 24 | Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi | Nature | 2009 | 1,433 |
| 25 | fastSTRUCTURE: Variational Inference of Population Structure in Large SNP Data Sets | Genetics | 2014 | 1,429 |
| 26 | Architecture of the human regulatory network derived from ENCODE data | Nature | 2012 | 1,384 |
| 27 | A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome | Nature | 1991 | 1,357 |
| 28 | Identification of Genes Periodically Expressed in the Human Cell Cycle and Their Expression in Tumors | Molecular Biology of the Cell | 2002 | 1,352 |
| 29 | Predicting Splicing from Primary Sequence with Deep Learning | Cell | 2019 | 1,305 |
| 30 | Expanded encyclopaedias of DNA elements in the human and mouse genomes | Nature | 2020 | 1,252 |
| 31 | Distribution and intensity of constraint in mammalian genomic sequence | Genome Research | 2005 | 1,230 |
| 32 | The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus | Cell | 1992 | 1,211 |
| 33 | FOXO transcription factors at the interface between longevity and tumor suppression | Oncogene | 2005 | 1,135 |
| 34 | Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes | Cell | 2012 | 1,134 |
| 35 | Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations | American Journal of Human Genetics | 2017 | 1,120 |
| 36 | Chromatin accessibility and the regulatory epigenome | Nature Reviews Genetics | 2019 | 1,112 |
| 37 | Extensive Promoter-Centered Chromatin Interactions Provide a Topological Basis for Transcription Regulation | Cell | 2012 | 1,096 |
| 38 | The FoxO code | Oncogene | 2008 | 1,079 |
| 39 | The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein | Nature Genetics | 1997 | 1,051 |
| 40 | Characterization of circulating T cells specific for tumor-associated antigens in melanoma patients | Nature Medicine | 1999 | 1,033 |
| 41 | Mapping copy number variation by population-scale genome sequencing | Nature | 2011 | 991 |
| 42 | A global genetic interaction network maps a wiring diagram of cellular function | Science | 2016 | 979 |
| 43 | Lineage-specific and single-cell chromatin accessibility charts human hematopoiesis and leukemia evolution | Nature Genetics | 2016 | 952 |
| 44 | Y chromosome sequence variation and the history of human populations | Nature Genetics | 2000 | 935 |
| 45 | Assembly of functionally integrated human forebrain spheroids | Nature | 2017 | 931 |
| 46 | Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics | American Journal of Human Genetics | 1996 | 928 |
| 47 | Construction of Transgenic Drosophila by Using the Site-Specific Integrase From Phage C31 | Genetics | 2004 | 915 |
| 48 | SGD: Saccharomyces Genome Database | Nucleic Acids Research | 1998 | 912 |
| 49 | The evolution of lncRNA repertoires and expression patterns in tetrapods | Nature | 2014 | 898 |
| 50 | [12] DNA arrays for analysis of gene expression | Methods in Enzymology | 1999 | 896 |
