Most cited papers in Genetic Associations and Epidemiology
What are the most cited papers in Genetic Associations and Epidemiology?
The most cited paper in Genetic Associations and Epidemiology is "PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses" (Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al., 2007), with 36,890 citations. Next come "WGCNA: an R package for weighted correlation network analysis" (30,149) and "A global reference for human genetic variation" (20,444).
Showing 50 of 100 papers. Every paper with more than 3,144 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics | 8 Aug 2007 | 36,890 |
| 2 | WGCNA: an R package for weighted correlation network analysis Peter Langfelder, Steve Horvath · BMC Bioinformatics | Dec 2008 | 30,149 |
| 3 | A global reference for human genetic variation Corresponding authors et al. · Nature | 29 Sep 2015 | 20,444 |
| 4 | The variant call format and VCFtools Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics | 7 Jun 2011 | 18,317 |
| 5 | Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows Laurent Excoffier, Heidi E. L. Lischer · Molecular Ecology Resources | Mar 2010 | 16,765 |
| 6 | DnaSP v5: a software for comprehensive analysis of DNA polymorphism data Pablo Librado, Julio Rozas · Bioinformatics | 3 Apr 2009 | 16,519 |
| 7 | Haploview: analysis and visualization of LD and haplotype maps Jeffrey C. Barrett, Ben N. Fry, Julian Maller et al. · Bioinformatics | 5 Aug 2004 | 14,838 |
| 8 | Second-generation PLINK: rising to the challenge of larger and richer datasets Christopher C. Chang, Carson C. Chow, Laurent CAM Tellier et al. · GigaScience | 24 Feb 2015 | 14,446 |
| 9 | UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age Cathie L. M. Sudlow, John Gallacher, Naomi E. Allen et al. · PLoS Medicine | 31 Mar 2015 | 13,925 |
| 10 | GenAlEx 6.5: genetic analysis in Excel. Population genetic software for teaching and research—an update Rod Peakall, Peter E. Smouse · Bioinformatics | 20 Jul 2012 | 13,417 |
| 11 | A framework for variation discovery and genotyping using next-generation DNA sequencing data Mark A. DePristo, Eric Banks, Ryan E. Poplin et al. · Nature Genetics | 10 Apr 2011 | 12,607 |
| 12 | Developing and evaluating complex interventions: the new Medical Research Council guidance Peter Craig, Paul A Dieppe, Sally MacIntyre et al. · BMJ | 29 Sep 2008 | 11,477 |
| 13 | Fast model-based estimation of ancestry in unrelated individuals David H. Alexander, John Novembre, Kenneth L. Lange · Genome Research | 31 Jul 2009 | 10,993 |
| 14 | Principal components analysis corrects for stratification in genome-wide association studies Alkes L. Price, Nick J. Patterson, Robert M. Plenge et al. · Nature Genetics | 23 Jul 2006 | 10,883 |
| 15 | Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression Jack Bowden, George Davey Smith, Stephen Burgess · International Journal of Epidemiology | Apr 2015 | 10,872 |
| 16 | Analysis of protein-coding genetic variation in 60,706 humans Monkol Lek et al. · Nature | Aug 2016 | 10,439 |
| 17 | Statistical significance for genomewide studies John D. Storey, Robert John Tibshirani · Proceedings of the National Academy of Sciences | 25 Jul 2003 | 10,199 |
| 18 | The UK Biobank resource with deep phenotyping and genomic data Clare Bycroft, Colin Freeman, Desislava Petkova et al. · Nature | 2 Oct 2018 | 10,121 |
| 19 | Consistent Estimation in Mendelian Randomization with Some Invalid Instruments Using a Weighted Median Estimator Jack Bowden, George Davey Smith, Philip Haycock et al. · Genetic Epidemiology | 7 Apr 2016 | 9,855 |
| 20 | Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls Paul R. Burton et al. · Nature | 6 Jun 2007 | 9,692 |
| 21 | GCTA: A Tool for Genome-wide Complex Trait Analysis Jian Yang, Sang Lee, Michael Edward Goddard et al. · The American Journal of Human Genetics | 17 Dec 2010 | 9,494 |
| 22 | Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases Marie Verbanck, Chia‐Yen Chen, Benjamin M. Neale et al. · Nature Genetics | 20 Apr 2018 | 9,402 |
| 23 | The Ensembl Variant Effect Predictor William M. McLaren, Laurent Gil, Sarah E Hunt et al. · Genome biology | 6 Jun 2016 | 8,991 |
| 24 | The MR-Base platform supports systematic causal inference across the human phenome Gibran Hemani, Jie Zheng, Benjamin L. Elsworth et al. · eLife | 30 May 2018 | 8,708 |
| 25 | Finding the missing heritability of complex diseases Teri A. Manolio et al. · Nature | Oct 2009 | 8,637 |
| 26 | adegenet : a R package for the multivariate analysis of genetic markers Thibaut Jombart · Bioinformatics | 8 Apr 2008 | 8,306 |
| 27 | An integrated map of genetic variation from 1,092 human genomes Gil A. McVean et al. · Nature | 31 Oct 2012 | 8,281 |
| 28 | Biological insights from 108 schizophrenia-associated genetic loci Stephan Ripke et al. · Nature | Jul 2014 | 8,181 |
| 29 | A map of human genome variation from population-scale sequencing Richard M. Durbin et al. · Nature | 26 Oct 2010 | 8,156 |
| 30 | Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities Myles S. Faith, Susan Carnell, Tanja V.E. Kral · Human Heredity | 2013 | 7,618 |
| 31 | A New Statistical Method for Haplotype Reconstruction from Population Data Matthew Stephens, Nicholas J. C. Smith, Peter Donnelly · The American Journal of Human Genetics | Apr 2001 | 7,588 |
| 32 | A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data Heng Li · Bioinformatics | 8 Sep 2011 | 7,508 |
| 33 | Statistical Tests of Neutrality of Mutations Against Population Growth, Hitchhiking and Background Selection Yun‐Xin Fu · Genetics | Oct 1997 | 7,294 |
| 34 | popart : full‐feature software for haplotype network construction Jessica Leigh, David Bryant · Methods in Ecology and Evolution | Jul 2015 | 7,008 |
| 35 | A general framework for estimating the relative pathogenicity of human genetic variants Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics | 2 Feb 2014 | 6,711 |
| 36 | Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data Stephen Burgess, Adam S. Butterworth, Simon G. Thompson · Genetic Epidemiology | 20 Sep 2013 | 6,596 |
| 37 | ‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease?* George Davey Smith, Shah B J Ebrahim · International Journal of Epidemiology | Feb 2003 | 6,495 |
| 38 | LD Score regression distinguishes confounding from polygenicity in genome-wide association studies Brendan K Bulik-Sullivan, Po‐Ru Loh, Hilary K. Finucane et al. · Nature Genetics | 2 Feb 2015 | 6,456 |
| 39 | DnaSP, DNA polymorphism analyses by the coalescent and other methods Julio Rozas, Juan Carlos Sánchez-DelBarrio, Xavier Messeguer et al. · Bioinformatics | 10 Dec 2003 | 6,211 |
| 40 | The International HapMap Project Richard A. Gibbs et al. · Nature | 18 Dec 2003 | 6,187 |
| 41 | MEGA2: molecular evolutionary genetics analysis software Sudhir Kumar, Koichiro Tamura, Ingrid B. Jakobsen et al. · Bioinformatics | Dec 2001 | 6,133 |
| 42 | The Structure of Haplotype Blocks in the Human Genome Stacey L. Gabriel, Stephen F. Schaffner, Huy Ngoc Nguyen et al. · Science | 21 Jun 2002 | 5,973 |
| 43 | Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm Haoyu Cheng, Gregory T. Concepcion, Xiaowen Feng et al. · Nature Methods | Feb 2021 | 5,964 |
| 44 | METAL: fast and efficient meta-analysis of genomewide association scans Cristen J. Willer, Yun Li, Gonçalo R. Abecasis · Bioinformatics | 8 Jul 2010 | 5,891 |
| 45 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans Kristin G. Ardlie et al. · Science | 7 May 2015 | 5,724 |
| 46 | The Endophenotype Concept in Psychiatry: Etymology and Strategic Intentions Irving I. Gottesman, Todd D. Gould · American Journal of Psychiatry | 31 Mar 2003 | 5,667 |
| 47 | The Future of Genetic Studies of Complex Human Diseases NEIL J. RISCH, Kathleen Ries Merikangas · Science | 13 Sep 1996 | 5,416 |
| 48 | Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results Eric S. Lander, Leonid Kruglyak · Nature Genetics | Nov 1995 | 5,303 |
| 49 | Discriminant analysis of principal components: a new method for the analysis of genetically structured populations Thibaut Jombart, Sébastien Devillard, François Balloux · BMC Genetics | 2010 | 5,232 |
| 50 | Mendelian randomization: genetic anchors for causal inference in epidemiological studies George Davey Smith, Gibran Hemani · Human Molecular Genetics | 4 Jul 2014 | 5,184 |
Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.