| # | Title | Journal | Year | Citations |
|---|
|
| 1 | Canu: scalable and accurate long-read assembly via adaptivek-mer weighting and repeat separation | Genome Research | 2017 | 6,000 |
| 2 | 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 | 3,758 |
| 3 | A reference panel of 64,976 haplotypes for genotype imputation | Nature Genetics | 2016 | 2,559 |
| 4 | A guide to cancer immunotherapy: from T cell basic science to clinical practice | Nature Reviews Immunology | 2020 | 2,496 |
| 5 | Mash: fast genome and metagenome distance estimation using MinHash | Genome Biology | 2016 | 2,294 |
| 6 | The human skin microbiome | Nature Reviews Microbiology | 2018 | 1,758 |
| 7 | The complete sequence of a human genome | Science | 2022 | 1,565 |
| 8 | 30 Years of NF-κB: A Blossoming of Relevance to Human Pathobiology | Cell | 2017 | 1,516 |
| 9 | Biomarkers in Cancer Staging, Prognosis and Treatment Selection | Nature Reviews Cancer | 2005 | 1,477 |
| 10 | Towards complete and error-free genome assemblies of all vertebrate species | Nature | 2021 | 1,462 |
| 11 | Chronic active B-cell-receptor signalling in diffuse large B-cell lymphoma | Nature | 2010 | 1,438 |
| 12 | The developmental transcriptome of Drosophila melanogaster | Nature | 2011 | 1,406 |
| 13 | Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies | Genome Biology | 2020 | 1,328 |
| 14 | A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis | American Journal of Human Genetics | 2004 | 1,326 |
| 15 | SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap | Bioinformatics | 2008 | 1,214 |
| 16 | Analysis of shared heritability in common disorders of the brain | Science | 2018 | 1,165 |
| 17 | Metformin improves healthspan and lifespan in mice | Nature Communications | 2013 | 1,162 |
| 18 | Identification of Functional Elements and Regulatory Circuits by Drosophila modENCODE | Science | 2010 | 1,152 |
| 19 | Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci | Nature Genetics | 2010 | 1,145 |
| 20 | Resveratrol Delays Age-Related Deterioration and Mimics Transcriptional Aspects of Dietary Restriction without Extending Life Span | Cell Metabolism | 2008 | 1,078 |
| 21 | Pluripotency governed by Sox2 via regulation of Oct3/4 expression in mouse embryonic stem cells | Nature Cell Biology | 2007 | 1,074 |
| 22 | ClinGen — The Clinical Genome Resource | New England Journal of Medicine | 2015 | 1,072 |
| 23 | GoMiner: a resource for biological interpretation of genomic and proteomic data | Genome Biology | 2003 | 1,039 |
| 24 | From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus | Nature | 2010 | 1,034 |
| 25 | The genetic architecture of type 2 diabetes | Nature | 2016 | 973 |
| 26 | Pyruvate Kinase M2 Regulates Hif-1α Activity and IL-1β Induction and Is a Critical Determinant of the Warburg Effect in LPS-Activated Macrophages | Cell Metabolism | 2015 | 957 |
| 27 | Embryonic stem cell potency fluctuates with endogenous retrovirus activity | Nature | 2012 | 955 |
| 28 | TRIM family proteins and their emerging roles in innate immunity | Nature Reviews Immunology | 2008 | 926 |
| 29 | Non-neuronal expression of SARS-CoV-2 entry genes in the olfactory system suggests mechanisms underlying COVID-19-associated anosmia | Science Advances | 2020 | 926 |
| 30 | The Genetic Association Database | Nature Genetics | 2004 | 906 |
| 31 | Multiple loci identified in a genome-wide association study of prostate cancer | Nature Genetics | 2008 | 874 |
| 32 | A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus | Nature Genetics | 2013 | 856 |
| 33 | Dynamics of Global Gene Expression Changes during Mouse Preimplantation Development | Developmental Cell | 2004 | 824 |
| 34 | Genomic analysis of the host response to hepatitis C virus infection | Proceedings of the National Academy of Sciences of the United States of America | 2002 | 811 |
| 35 | How to Interpret a Genome-wide Association Study | JAMA - Journal of the American Medical Association | 2008 | 795 |
| 36 | Quantitative high-throughput screening: A titration-based approach that efficiently identifies biological activities in large chemical libraries | Proceedings of the National Academy of Sciences of the United States of America | 2006 | 744 |
| 37 | Identification of HuR target circular RNAs uncovers suppression of PABPN1 translation by CircPABPN1 | RNA Biology | 2017 | 685 |
| 38 | Diversity and dynamics of the Drosophila transcriptome | Nature | 2014 | 682 |
| 39 | Insights into hominid evolution from the gorilla genome sequence | Nature | 2012 | 672 |
| 40 | The Genetic Landscape of the Childhood Cancer Medulloblastoma | Science | 2011 | 659 |
| 41 | Pyruvate kinase M2 activators promote tetramer formation and suppress tumorigenesis | Nature Chemical Biology | 2012 | 642 |
| 42 | Genetic Alterations Activating Kinase and Cytokine Receptor Signaling in High-Risk Acute Lymphoblastic Leukemia | Cancer Cell | 2012 | 639 |
| 43 | Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer | Nature Genetics | 2009 | 608 |
| 44 | Synthetic spike-in standards for RNA-seq experiments | Genome Research | 2011 | 604 |
| 45 | Telomere-to-telomere assembly of a complete human X chromosome | Nature | 2020 | 590 |
| 46 | Modulation of Innate and Adaptive Immune Responses by Tofacitinib (CP-690,550) | Journal of Immunology | 2011 | 586 |
| 47 | Protection from Obesity and Diabetes by Blockade of TGF-β/Smad3 Signaling | Cell Metabolism | 2011 | 576 |
| 48 | MicroRNAs can generate thresholds in target gene expression | Nature Genetics | 2011 | 574 |
| 49 | High-throughput screening assays for the identification of chemical probes | Nature Chemical Biology | 2007 | 565 |
| 50 | Rare and low-frequency coding variants alter human adult height | Nature | 2017 | 560 |
