| # | Title | Journal | Year | Citations |
|---|
| 1 | tRNAscan-SE: A Program for Improved Detection of Transfer RNA Genes in Genomic Sequence | Nucleic Acids Research | 1997 | 9,417 |
| 2 | Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA, IDH1, EGFR, and NF1 | Cancer Cell | 2010 | 6,138 |
| 3 | The Genome Sequence of Drosophila melanogaster | Science | 2000 | 5,566 |
| 4 | Profile hidden Markov models | Bioinformatics | 1998 | 4,873 |
| 5 | A comprehensive analysis of protein–protein interactions in Saccharomyces cerevisiae | Nature | 2000 | 4,490 |
| 6 | tRNAscan-SE: A Program for Improved Detection of Transfer RNA Genes in Genomic Sequence | Nucleic Acids Research | 1997 | 3,970 |
| 7 | Functional profiling of the Saccharomyces cerevisiae genome | Nature | 2002 | 3,938 |
| 8 | Genetic studies of body mass index yield new insights for obesity biology | Nature | 2015 | 3,823 |
| 9 | Functional Characterization of the S. cerevisiae Genome by Gene Deletion and Parallel Analysis | Science | 1999 | 3,761 |
| 10 | Life with 6000 Genes | Science | 1996 | 3,548 |
| 11 | Somatic mutations affect key pathways in lung adenocarcinoma | Nature | 2008 | 2,694 |
| 12 | Discovery and refinement of loci associated with lipid levels | Nature Genetics | 2013 | 2,641 |
| 13 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 14 | The Chlamydomonas Genome Reveals the Evolution of Key Animal and Plant Functions | Science | 2007 | 2,354 |
| 15 | Identification of a CpG Island Methylator Phenotype that Defines a Distinct Subgroup of Glioma | Cancer Cell | 2010 | 2,078 |
| 16 | A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease | Nature Genetics | 2015 | 2,054 |
| 17 | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk | Nature Genetics | 2010 | 1,982 |
| 18 | Defining the role of common variation in the genomic and biological architecture of adult human height | Nature Genetics | 2014 | 1,818 |
| 19 | Hundreds of variants clustered in genomic loci and biological pathways affect human height | Nature | 2010 | 1,789 |
| 20 | Genetic applications of an inverse polymerase chain reaction. | Genetics | 1988 | 1,733 |
| 21 | Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors | Science | 1987 | 1,600 |
| 22 | 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans | Nature | 1994 | 1,578 |
| 23 | A comparative encyclopedia of DNA elements in the mouse genome | Nature | 2014 | 1,444 |
| 24 | New genetic loci link adipose and insulin biology to body fat distribution | Nature | 2015 | 1,328 |
| 25 | Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use | Nature Genetics | 2019 | 1,307 |
| 26 | DNA binding sites: representation and discovery | Bioinformatics | 2000 | 1,265 |
| 27 | Disruption of the clock components CLOCK and BMAL1 leads to hypoinsulinaemia and diabetes | Nature | 2010 | 1,261 |
| 28 | Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas | Science | 2010 | 1,242 |
| 29 | Non–coding RNA genes and the modern RNA world | Nature Reviews Genetics | 2001 | 1,235 |
| 30 | Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways | Nature Genetics | 2009 | 1,229 |
| 31 | The complete sequence of a human genome | Science | 2022 | 1,222 |
| 32 | Genome-wide association study identifies 74 loci associated with educational attainment | Nature | 2016 | 1,204 |
| 33 | Hidden Markov models | Current Opinion in Structural Biology | 1996 | 1,118 |
| 34 | A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes | Science | 2012 | 1,095 |
| 35 | Pfam: A comprehensive database of protein domain families based on seed alignments | Science | 1997 | 1,036 |
| 36 | Separation of chromosomal DNA molecules from yeast by orthogonal-field-alternation gel electrophoresis | Nucleic Acids Research | 1984 | 965 |
| 37 | Electrophoretic separations of large DNA molecules by periodic inversion of the electric field | Science | 1986 | 959 |
| 38 | Three-Dimensional High-Resolution Second-Harmonic Generation Imaging of Endogenous Structural Proteins in Biological Tissues | Biophysical Journal | 2002 | 889 |
| 39 | A physical map of the human genome | Nature | 2001 | 865 |
| 40 | Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity | Nature Genetics | 2012 | 848 |
| 41 | A common language for physical mapping of the human genome | Science | 1989 | 844 |
| 42 | Human T Regulatory Cells Can Use the Perforin Pathway to Cause Autologous Target Cell Death | Immunity | 2004 | 844 |
| 43 | Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution | Nature Genetics | 2010 | 836 |
| 44 | Statistical tests for detecting gene conversion. | Molecular Biology and Evolution | 1989 | 812 |
| 45 | Vertebrate genome evolution and the zebrafish gene map | Nature Genetics | 1998 | 792 |
| 46 | Finding Functional Features in Saccharomyces Genomes by Phylogenetic Footprinting | Science | 2003 | 790 |
| 47 | Automated De Novo Identification of Repeat Sequence Families in Sequenced Genomes | Genome Research | 2002 | 776 |
| 48 | A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance | Nature Genetics | 2012 | 762 |
| 49 | Common variants associated with plasma triglycerides and risk for coronary artery disease | Nature Genetics | 2013 | 754 |
| 50 | SARS-CoV-2 infection of human ACE2-transgenic mice causes severe lung inflammation and impaired function | Nature Immunology | 2020 | 743 |
