| # | Title | Journal | Year | Citations |
|---|
| 1 | Gapped BLAST and PSI-BLAST: a new generation of protein database search programs | Nucleic Acids Research | 1997 | 64,420 |
| 2 | Mutation in the -Synuclein Gene Identified in Families with Parkinson's Disease | Science | 1997 | 7,557 |
| 3 | Finding the missing heritability of complex diseases | Nature | 2009 | 7,490 |
| 4 | The Genotype-Tissue Expression (GTEx) project | Nature Genetics | 2013 | 6,815 |
| 5 | The Cancer Genome Atlas Pan-Cancer analysis project | Nature Genetics | 2013 | 6,265 |
| 6 | Canu: scalable and accurate long-read assembly via adaptive k-mer weighting and repeat separation | Genome Research | 2017 | 5,620 |
| 7 | Bone marrow cells regenerate infarcted myocardium | Nature | 2001 | 4,884 |
| 8 | A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD | Neuron | 2011 | 3,833 |
| 9 | Genetic studies of body mass index yield new insights for obesity biology | Nature | 2015 | 3,823 |
| 10 | Potential etiologic and functional implications of genome-wide association loci for human diseases and traits | Proceedings of the National Academy of Sciences of the United States of America | 2009 | 3,719 |
| 11 | Tissue microarrays for high-throughput molecular profiling of tumor specimens | Nature Medicine | 1998 | 3,661 |
| 12 | A Draft Sequence of the Neandertal Genome | Science | 2010 | 3,588 |
| 13 | Biological, clinical and population relevance of 95 loci for blood lipids | Nature | 2010 | 3,249 |
| 14 | The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 | Nucleic Acids Research | 2019 | 3,179 |
| 15 | Guidelines for the use and interpretation of assays for monitoring autophagy | Autophagy | 2012 | 3,122 |
| 16 | Accurate whole human genome sequencing using reversible terminator chemistry | Nature | 2008 | 3,118 |
| 17 | High throughput ANI analysis of 90K prokaryotic genomes reveals clear species boundaries | Nature Communications | 2018 | 2,816 |
| 18 | Somatic mutations affect key pathways in lung adenocarcinoma | Nature | 2008 | 2,694 |
| 19 | Discovery and refinement of loci associated with lipid levels | Nature Genetics | 2013 | 2,641 |
| 20 | A single ataxia telangiectasia gene with a product similar to PI-3 kinase | Science | 1995 | 2,634 |
| 21 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 22 | A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants | Science | 2007 | 2,534 |
| 23 | A reference panel of 64,976 haplotypes for genotype imputation | Nature Genetics | 2016 | 2,421 |
| 24 | The skin microbiome | Nature Reviews Microbiology | 2011 | 2,404 |
| 25 | Classification and diagnostic prediction of cancers using gene expression profiling and artificial neural networks | Nature Medicine | 2001 | 2,352 |
| 26 | Topographical and Temporal Diversity of the Human Skin Microbiome | Science | 2009 | 2,280 |
| 27 | Genome sequence, comparative analysis and haplotype structure of the domestic dog | Nature | 2005 | 2,215 |
| 28 | The potential and challenges of nanopore sequencing | Nature Biotechnology | 2008 | 2,201 |
| 29 | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Genetics in Medicine | 2013 | 2,186 |
| 30 | Mash: fast genome and metagenome distance estimation using MinHash | Genome Biology | 2016 | 2,099 |
| 31 | An integrated map of structural variation in 2,504 human genomes | Nature | 2015 | 1,994 |
| 32 | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk | Nature Genetics | 2010 | 1,982 |
| 33 | A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases | Nature Medicine | 2015 | 1,967 |
| 34 | The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) | Nucleic Acids Research | 2017 | 1,932 |
| 35 | Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome | Nature | 2003 | 1,925 |
| 36 | Molecular classification of cutaneous malignant melanoma by gene expression profiling | Nature | 2000 | 1,877 |
| 37 | The complete genome sequence of a Neanderthal from the Altai Mountains | Nature | 2014 | 1,830 |
| 38 | Defining the role of common variation in the genomic and biological architecture of adult human height | Nature Genetics | 2014 | 1,818 |
| 39 | Hundreds of variants clustered in genomic loci and biological pathways affect human height | Nature | 2010 | 1,789 |
| 40 | Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease | New England Journal of Medicine | 2009 | 1,747 |
| 41 | Vascular Channel Formation by Human Melanoma Cells in Vivo and in Vitro: Vasculogenic Mimicry | American Journal of Pathology | 1999 | 1,705 |
| 42 | Multicolor Spectral Karyotyping of Human Chromosomes | Science | 1996 | 1,699 |
| 43 | Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes | Nature Genetics | 2008 | 1,683 |
| 44 | Gene-Expression Profiles in Hereditary Breast Cancer | New England Journal of Medicine | 2001 | 1,669 |
| 45 | A vision for the future of genomics research | Nature | 2003 | 1,650 |
| 46 | Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis | Nature Genetics | 2010 | 1,631 |
| 47 | The human skin microbiome | Nature Reviews Microbiology | 2018 | 1,576 |
| 48 | REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants | American Journal of Human Genetics | 2016 | 1,555 |
| 49 | High frequency of BRAF mutations in nevi | Nature Genetics | 2003 | 1,547 |
| 50 | Expression profiling using cDNA microarrays | Nature Genetics | 1999 | 1,529 |
