Topic · Genomics and Rare Diseases
Most cited papers in Genomics and Rare Diseases
What are the most cited papers in Genomics and Rare Diseases?
The most cited paper in Genomics and Rare Diseases is "Trimmomatic: a flexible trimmer for Illumina sequence data" (Anthony Bolger, Marc Lohse, Björn Usadel, 2014), with 71,819 citations. Next come "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology" (33,443) and "BEDTools: a flexible suite of utilities for comparing genomic features" (31,302).
Showing 50 of 101 papers. Every paper with more than 2,093 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Trimmomatic: a flexible trimmer for Illumina sequence data Anthony Bolger, Marc Lohse, Björn Usadel · Bioinformatics | Apr 2014 | 71,819 |
| 2 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Sue M. Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine | 5 Mar 2015 | 33,443 |
| 3 | BEDTools: a flexible suite of utilities for comparing genomic features Aaron R. Quinlan, Ira M. Hall · Bioinformatics | 28 Jan 2010 | 31,302 |
| 4 | HTSeq—a Python framework to work with high-throughput sequencing data Simon Anders, Paul Theodor Pyl, Wolfgang K. Huber · Bioinformatics | 25 Sep 2014 | 23,242 |
| 5 | A global reference for human genetic variation Corresponding authors et al. · Nature | 29 Sep 2015 | 20,444 |
| 6 | The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data Ethan G Cerami, Jianjiong Gao, Uğur Doğrusöz et al. · Cancer Discovery | May 2012 | 18,789 |
| 7 | The variant call format and VCFtools Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics | 7 Jun 2011 | 18,317 |
| 8 | DnaSP v5: a software for comprehensive analysis of DNA polymorphism data Pablo Librado, Julio Rozas · Bioinformatics | 3 Apr 2009 | 16,519 |
| 9 | ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Kai You Wang, Man Li, Hakon H. Hakonarson · Nucleic Acids Research | 3 Jul 2010 | 15,953 |
| 10 | A method and server for predicting damaging missense mutations Ivan A. Adzhubei, Steffen Schmidt, Leonid Peshkin et al. · Nature Methods | 30 Mar 2010 | 13,759 |
| 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 | CD-HIT: accelerated for clustering the next-generation sequencing data LiMin Fu, Beifang Niu, Zhengwei Zhu et al. · Bioinformatics | 11 Oct 2012 | 12,256 |
| 13 | Analysis of protein-coding genetic variation in 60,706 humans Monkol Lek et al. · Nature | Aug 2016 | 10,439 |
| 14 | The mutational constraint spectrum quantified from variation in 141,456 humans Konrad J. Karczewski et al. · Nature | 27 May 2020 | 10,422 |
| 15 | The Ensembl Variant Effect Predictor William M. McLaren, Laurent Gil, Sarah E Hunt et al. · Genome biology | 6 Jun 2016 | 8,991 |
| 16 | Finding the missing heritability of complex diseases Teri A. Manolio et al. · Nature | Oct 2009 | 8,637 |
| 17 | An integrated map of genetic variation from 1,092 human genomes Gil A. McVean et al. · Nature | 31 Oct 2012 | 8,281 |
| 18 | A map of human genome variation from population-scale sequencing Richard M. Durbin et al. · Nature | 26 Oct 2010 | 8,156 |
| 19 | From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline Geraldine A. Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics | Oct 2013 | 7,364 |
| 20 | SIFT: predicting amino acid changes that affect protein function P.C. Ng · Nucleic Acids Research | 24 Jun 2003 | 6,991 |
| 21 | 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 |
| 22 | The International HapMap Project Richard A. Gibbs et al. · Nature | 18 Dec 2003 | 6,187 |
| 23 | The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses Gil Stelzer, Naomi Rosen, Inbar Plaschkes et al. · Current Protocols in Bioinformatics | Jun 2016 | 5,762 |
| 24 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans Kristin G. Ardlie et al. · Science | 7 May 2015 | 5,724 |
| 25 | The Future of Genetic Studies of Complex Human Diseases NEIL J. RISCH, Kathleen Ries Merikangas · Science | 13 Sep 1996 | 5,416 |
| 26 | COSMIC: the Catalogue Of Somatic Mutations In Cancer John G. Tate et al. · Nucleic Acids Research | 11 Oct 2018 | 5,379 |
| 27 | Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results Eric S. Lander, Leonid Kruglyak · Nature Genetics | Nov 1995 | 5,303 |
| 28 | Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia The Cancer Genome Atlas Research Network · New England Journal of Medicine | 2 May 2013 | 5,244 |
| 29 | Classification of primary progressive aphasia and its variants Maria‐Luisa Gorno‐Tempini, Argye Elizabeth Hillis, Sandra Weıntraub et al. · Neurology | 16 Feb 2011 | 5,238 |
| 30 | Common polygenic variation contributes to risk of schizophrenia and bipolar disorder Shaun Purcell et al. · Nature | Jul 2009 | 5,082 |
| 31 | Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians Neil M Davies, Michael Vaclav Holmes, George Davey Smith · BMJ | 12 Jul 2018 | 4,815 |
| 32 | RAxML-NG: a fast, scalable and user-friendly tool for maximum likelihood phylogenetic inference Alexey M. Kozlov, Diego Darriba, Tomáš Flouri et al. · Bioinformatics | 24 Apr 2019 | 4,725 |
| 33 | The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 Annalisa Buniello et al. · Nucleic Acids Research | 25 Oct 2018 | 4,675 |
| 34 | ClinVar: improving access to variant interpretations and supporting evidence Melissa Landrum et al. · Nucleic Acids Research | 17 Nov 2017 | 4,603 |
| 35 | Coming of age: ten years of next-generation sequencing technologies Sara Goodwin, John D. McPherson, William Richard McCombie · Nature Reviews Genetics | 17 May 2016 | 4,586 |
| 36 | The Unified Medical Language System (UMLS): integrating biomedical terminology Olivier Bodenreider · Nucleic Acids Research | 17 Dec 2003 | 4,474 |
| 37 | Global variation in copy number in the human genome Richard Redon et al. · Nature | Nov 2006 | 4,397 |
| 38 | FinnGen provides genetic insights from a well-phenotyped isolated population Mitja Kurki et al. · Nature | 18 Jan 2023 | 4,362 |
| 39 | Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease Robin P. Sherrington et al. · Nature | Jun 1995 | 4,080 |
| 40 | The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003 Brigitte Boeckmann · Nucleic Acids Research | 2003 | 4,013 |
| 41 | CADD: predicting the deleteriousness of variants throughout the human genome Philipp Rentzsch, Daniela Witten, Gregory M. Cooper et al. · Nucleic Acids Research | 11 Oct 2018 | 4,002 |
| 42 | SOAP2: an improved ultrafast tool for short read alignment Ruiqiang Li, Chang Yu, Yingrui Li et al. · Bioinformatics | 3 Jun 2009 | 3,935 |
| 43 | Mendelian Randomization Connor A. Emdin, Amit V. Khera, Sekar Kathiresan · JAMA | 21 Nov 2017 | 3,930 |
| 44 | Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 Ivan A. Adzhubei, Daniel M. Jordan, Shamil R. Sunyaev · Current Protocols in Human Genetics | 2013 | 3,916 |
| 45 | The repertoire of mutational signatures in human cancer Ludmil B. Alexandrov et al. · Nature | 5 Feb 2020 | 3,854 |
| 46 | MutationTaster2: mutation prediction for the deep-sequencing age Jana Marie Schwarz, D.N. Cooper, Markus Schuelke et al. · Nature Methods | 28 Mar 2014 | 3,846 |
| 47 | SOAP: short oligonucleotide alignment program Ruiqiang Li, Yingrui Li, Karsten Kristiansen et al. · Bioinformatics | 28 Jan 2008 | 3,812 |
| 48 | ClinVar: public archive of relationships among sequence variation and human phenotype Melissa Landrum, Jennifer M. Lee, George R. Riley et al. · Nucleic Acids Research | 14 Nov 2013 | 3,790 |
| 49 | Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Richard S. Spielman, Ralph E. McGinnis, Warren J. Ewens · PubMed | Mar 1993 | 3,695 |
| 50 | ANGSD: Analysis of Next Generation Sequencing Data Thorfinn Sand Korneliussen, Anders Albrechtsen, Rasmus O. Nielsen · BMC Bioinformatics | 24 Nov 2014 | 3,383 |
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.