| # | Title | Journal | Year | Citations |
|---|
| 1 | Minimap2: pairwise alignment for nucleotide sequences | Bioinformatics | 2018 | 7,764 |
| 2 | Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration | Briefings in Bioinformatics | 2013 | 7,249 |
| 3 | An integrated map of genetic variation from 1,092 human genomes | Nature | 2012 | 7,199 |
| 4 | A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data | Bioinformatics | 2011 | 5,467 |
| 5 | From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline | Current Protocols in Bioinformatics | 2013 | 4,796 |
| 6 | Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease | Nature Genetics | 2013 | 3,741 |
| 7 | Twist, a Master Regulator of Morphogenesis, Plays an Essential Role in Tumor Metastasis | Cell | 2004 | 3,405 |
| 8 | Biological, clinical and population relevance of 95 loci for blood lipids | Nature | 2010 | 3,249 |
| 9 | A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene | Science | 2006 | 2,739 |
| 10 | Discovery and refinement of loci associated with lipid levels | Nature Genetics | 2013 | 2,641 |
| 11 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | Nature Genetics | 2010 | 2,634 |
| 12 | Integrating common and rare genetic variation in diverse human populations | Nature | 2010 | 2,625 |
| 13 | Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression | Nature Genetics | 2018 | 2,224 |
| 14 | Discrete Small RNA-Generating Loci as Master Regulators of Transposon Activity in Drosophila | Cell | 2007 | 2,215 |
| 15 | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk | Nature Genetics | 2010 | 1,982 |
| 16 | Genetics of rheumatoid arthritis contributes to biology and drug discovery | Nature | 2014 | 1,974 |
| 17 | Transcriptional regulatory code of a eukaryotic genome | Nature | 2004 | 1,969 |
| 18 | Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing | Nature Genetics | 2019 | 1,962 |
| 19 | Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study | Lancet, The | 2012 | 1,937 |
| 20 | Hundreds of variants clustered in genomic loci and biological pathways affect human height | Nature | 2010 | 1,789 |
| 21 | Gene-expression profiles and transcriptional regulatory pathways that underlie the identity and diversity of mouse tissue macrophages | Nature Immunology | 2012 | 1,731 |
| 22 | Pan-cancer patterns of somatic copy number alteration | Nature Genetics | 2013 | 1,616 |
| 23 | Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry | Human Molecular Genetics | 2018 | 1,541 |
| 24 | Minimum information about a single amplified genome (MISAG) and a metagenome-assembled genome (MIMAG) of bacteria and archaea | Nature Biotechnology | 2017 | 1,512 |
| 25 | Cohesin Loss Eliminates All Loop Domains | Cell | 2017 | 1,454 |
| 26 | Stochastic State Transitions Give Rise to Phenotypic Equilibrium in Populations of Cancer Cells | Cell | 2011 | 1,334 |
| 27 | Loss of E-Cadherin Promotes Metastasis via Multiple Downstream Transcriptional Pathways | Cancer Research | 2008 | 1,298 |
| 28 | Expanded encyclopaedias of DNA elements in the human and mouse genomes | Nature | 2020 | 1,252 |
| 29 | Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia | Cell | 2013 | 1,202 |
| 30 | Metabolite Profiling Identifies a Key Role for Glycine in Rapid Cancer Cell Proliferation | Science | 2012 | 1,201 |
| 31 | Dependency of a therapy-resistant state of cancer cells on a lipid peroxidase pathway | Nature | 2017 | 1,194 |
| 32 | Genome-wide association study identifies 30 loci associated with bipolar disorder | Nature Genetics | 2019 | 1,191 |
| 33 | MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins | Nucleic Acids Research | 2016 | 1,170 |
| 34 | Improving RNA-Seq expression estimates by correcting for fragment bias | Genome Biology | 2011 | 1,164 |
| 35 | Adaptive resistance to therapeutic PD-1 blockade is associated with upregulation of alternative immune checkpoints | Nature Communications | 2016 | 1,163 |
| 36 | Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci | Nature Genetics | 2010 | 1,132 |
| 37 | Integrative analysis reveals selective 9p24.1 amplification, increased PD-1 ligand expression, and further induction via JAK2 in nodular sclerosing Hodgkin lymphoma and primary mediastinal large B-cell lymphoma | Blood | 2010 | 1,122 |
| 38 | FTO Obesity Variant Circuitry and Adipocyte Browning in Humans | New England Journal of Medicine | 2015 | 1,105 |
| 39 | A Single-Cell Transcriptomic Map of the Human and Mouse Pancreas Reveals Inter- and Intra-cell Population Structure | Cell Systems | 2016 | 1,098 |
| 40 | PRAS40 Is an Insulin-Regulated Inhibitor of the mTORC1 Protein Kinase | Molecular Cell | 2007 | 1,088 |
| 41 | Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences | Bioinformatics | 2016 | 1,082 |
| 42 | Activation of the PD-1 Pathway Contributes to Immune Escape in EGFR-Driven Lung Tumors | Cancer Discovery | 2013 | 1,073 |
| 43 | Drug-tolerant persister cancer cells are vulnerable to GPX4 inhibition | Nature | 2017 | 1,043 |
| 44 | From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus | Nature | 2010 | 1,018 |
| 45 | Advances in understanding cancer genomes through second-generation sequencing | Nature Reviews Genetics | 2010 | 1,014 |
| 46 | Paternally Induced Transgenerational Environmental Reprogramming of Metabolic Gene Expression in Mammals | Cell | 2010 | 990 |
| 47 | Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia | Nature | 2010 | 980 |
| 48 | Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility | Nature Genetics | 2014 | 959 |
| 49 | The genetic architecture of type 2 diabetes | Nature | 2016 | 952 |
| 50 | Phosphoglycerate dehydrogenase diverts glycolytic flux and contributes to oncogenesis | Nature Genetics | 2011 | 945 |
