| # | Title | Journal | Year | Citations |
|---|
| 1 | Fast and accurate short read alignment with Burrows–Wheeler transform | Bioinformatics | 2009 | 43,062 |
| 2 | The variant call format and VCFtools | Bioinformatics | 2011 | 11,326 |
| 3 | Fast and accurate long-read alignment with Burrows–Wheeler transform | Bioinformatics | 2010 | 10,002 |
| 4 | Signatures of mutational processes in human cancer | Nature | 2013 | 8,060 |
| 5 | An integrated map of genetic variation from 1,092 human genomes | Nature | 2012 | 7,199 |
| 6 | Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing | New England Journal of Medicine | 2012 | 6,769 |
| 7 | The Pfam protein families database | Nucleic Acids Research | 2007 | 6,372 |
| 8 | The mutational constraint spectrum quantified from variation in 141,456 humans | Nature | 2020 | 6,140 |
| 9 | Pfam: the protein families database | Nucleic Acids Research | 2014 | 5,425 |
| 10 | Twelve years of SAMtools and BCFtools | GigaScience | 2021 | 4,546 |
| 11 | Landscape of transcription in human cells | Nature | 2012 | 4,484 |
| 12 | GENCODE: The reference human genome annotation for The ENCODE Project | Genome Research | 2012 | 4,217 |
| 13 | Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease | Nature | 2012 | 4,038 |
| 14 | Cerebral organoids model human brain development and microcephaly | Nature | 2013 | 3,889 |
| 15 | A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity | Science | 2007 | 3,884 |
| 16 | Genetic studies of body mass index yield new insights for obesity biology | Nature | 2015 | 3,823 |
| 17 | The zebrafish reference genome sequence and its relationship to the human genome | Nature | 2013 | 3,708 |
| 18 | Systematic functional analysis of the Caenorhabditis elegans genome using RNAi | Nature | 2003 | 3,343 |
| 19 | The Pfam protein families database | Nucleic Acids Research | 2012 | 3,306 |
| 20 | Biological, clinical and population relevance of 95 loci for blood lipids | Nature | 2010 | 3,249 |
| 21 | COSMIC: the Catalogue Of Somatic Mutations In Cancer | Nucleic Acids Research | 2019 | 3,196 |
| 22 | The Pfam protein families database | Nucleic Acids Research | 2004 | 3,084 |
| 23 | The cancer genome | Nature | 2009 | 2,904 |
| 24 | A census of human cancer genes | Nature Reviews Cancer | 2004 | 2,868 |
| 25 | Patterns of somatic mutation in human cancer genomes | Nature | 2007 | 2,802 |
| 26 | The Pfam protein families database | Nucleic Acids Research | 2010 | 2,693 |
| 27 | Drug repurposing: progress, challenges and recommendations | Nature Reviews Drug Discovery | 2019 | 2,689 |
| 28 | Reagent and laboratory contamination can critically impact sequence-based microbiome analyses | BMC Biology | 2014 | 2,677 |
| 29 | Discovery and refinement of loci associated with lipid levels | Nature Genetics | 2013 | 2,641 |
| 30 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 31 | Gene finding in novel genomes | BMC Bioinformatics | 2004 | 2,443 |
| 32 | A reference panel of 64,976 haplotypes for genotype imputation | Nature Genetics | 2016 | 2,421 |
| 33 | Genomics of Drug Sensitivity in Cancer (GDSC): a resource for therapeutic biomarker discovery in cancer cells | Nucleic Acids Research | 2012 | 2,363 |
| 34 | Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies | American Journal of Human Genetics | 2010 | 2,325 |
| 35 | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci | Nature Genetics | 2010 | 2,284 |
| 36 | SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes | Nature Medicine | 2020 | 2,182 |
| 37 | Systematic identification of genomic markers of drug sensitivity in cancer cells | Nature | 2012 | 2,173 |
| 38 | The repertoire of mutational signatures in human cancer | Nature | 2020 | 2,104 |
| 39 | COSMIC: exploring the world's knowledge of somatic mutations in human cancer | Nucleic Acids Research | 2015 | 2,096 |
| 40 | The Pfam Protein Families Database | Nucleic Acids Research | 2002 | 2,067 |
| 41 | A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease | Nature Genetics | 2015 | 2,054 |
| 42 | Pfam: clans, web tools and services | Nucleic Acids Research | 2006 | 2,030 |
| 43 | Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development | Cell | 2011 | 2,020 |
| 44 | COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer | Nucleic Acids Research | 2011 | 2,015 |
| 45 | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk | Nature Genetics | 2010 | 1,982 |
| 46 | Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease | Nature | 2003 | 1,980 |
| 47 | Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations | Nature Genetics | 2015 | 1,965 |
| 48 | A survey of best practices for RNA-seq data analysis | Genome Biology | 2016 | 1,898 |
| 49 | The Genome Sequence of the Malaria MosquitoAnopheles gambiae | Science | 2002 | 1,859 |
| 50 | Defining the role of common variation in the genomic and biological architecture of adult human height | Nature Genetics | 2014 | 1,818 |
