Most cited papers in Genomic variations and chromosomal abnormalities
What are the most cited papers in Genomic variations and chromosomal abnormalities?
The most cited paper in Genomic variations and chromosomal abnormalities is "The Sequence Alignment/Map format and SAMtools" (Heng Li, Bob Handsaker, Alec Wysoker et al., 2009), with 69,061 citations. Next come "featureCounts: an efficient general purpose program for assigning sequence reads to genomic features" (30,361) and "BLAST+: architecture and applications" (24,075).
Showing 50 of 100 papers. Every paper with more than 1,637 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | The Sequence Alignment/Map format and SAMtools Heng Li, Bob Handsaker, Alec Wysoker et al. · Bioinformatics | 8 Jun 2009 | 69,061 |
| 2 | featureCounts: an efficient general purpose program for assigning sequence reads to genomic features Yang Liao, Gordon K. Smyth, Wei Shi · Bioinformatics | 13 Nov 2013 | 30,361 |
| 3 | BLAST+: architecture and applications Christiam Camacho, George Coulouris, Vahram Avagyan et al. · BMC Bioinformatics | Dec 2009 | 24,075 |
| 4 | Model-based Analysis of ChIP-Seq (MACS) Yong Zhang, Tao Liu, Clifford A. Meyer et al. · Genome biology | 17 Sep 2008 | 20,527 |
| 5 | 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 |
| 6 | 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 |
| 7 | Comprehensive molecular portraits of human breast tumours The Cancer Genome Atlas Network · Nature | 21 Sep 2012 | 12,624 |
| 8 | 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 |
| 9 | Analysis of protein-coding genetic variation in 60,706 humans Monkol Lek et al. · Nature | Aug 2016 | 10,439 |
| 10 | 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 |
| 11 | 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 |
| 12 | Finding the missing heritability of complex diseases Teri A. Manolio et al. · Nature | Oct 2009 | 8,637 |
| 13 | A map of human genome variation from population-scale sequencing Richard M. Durbin et al. · Nature | 26 Oct 2010 | 8,156 |
| 14 | 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 |
| 15 | The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups METABRIC Group et al. · Nature | 17 Apr 2012 | 6,505 |
| 16 | The International HapMap Project Richard A. Gibbs et al. · Nature | 18 Dec 2003 | 6,187 |
| 17 | Common polygenic variation contributes to risk of schizophrenia and bipolar disorder Shaun Purcell et al. · Nature | Jul 2009 | 5,082 |
| 18 | ChIPseeker: an R/Bioconductor package for ChIP peak annotation, comparison and visualization Guangchuang Yu, Li-Gen Wang, Qing‐Yu He · Bioinformatics | 11 Mar 2015 | 4,931 |
| 19 | 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 |
| 20 | Global variation in copy number in the human genome Richard Redon et al. · Nature | Nov 2006 | 4,397 |
| 21 | The landscape of somatic copy-number alteration across human cancers Rameen Beroukhim et al. · Nature | Feb 2010 | 4,220 |
| 22 | Genome-wide efficient mixed-model analysis for association studies Xiang Zhou, Matthew Stephens · Nature Genetics | 17 Jun 2012 | 4,152 |
| 23 | Tissue microarrays for high-throughput molecular profiling of tumor specimens Juha Kononen, Lukas Bubendorf, Anne Kallionimeni et al. · Nature Medicine | Jul 1998 | 4,144 |
| 24 | GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers Craig H. Mermel, Steven E. Schumacher, Barbara Hill et al. · Genome biology | Apr 2011 | 3,933 |
| 25 | Mendelian Randomization Connor A. Emdin, Amit V. Khera, Sekar Kathiresan · JAMA | 21 Nov 2017 | 3,930 |
| 26 | Accurate whole human genome sequencing using reversible terminator chemistry David Bentley et al. · Nature | Nov 2008 | 3,809 |
| 27 | Identification of the breast cancer susceptibility gene BRCA2 Richard Wooster et al. · Nature | Dec 1995 | 3,687 |
| 28 | The complete sequence of a human genome Sergey Nurk et al. · Science | 31 Mar 2022 | 3,475 |
| 29 | A census of human cancer genes P. Andrew Futreal, Lachlan Coin, Mhairi S. Marshall et al. · Nature reviews. Cancer | Mar 2004 | 3,364 |
| 30 | Comparative Genomic Hybridization for Molecular Cytogenetic Analysis of Solid Tumors Anne H. Kallioniemi, Olli Kallioniemi, Damir Sudar et al. · Science | 30 Oct 1992 | 3,324 |
| 31 | Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Daniel Pinkel, T. Straume, Joe W. Gray · Proceedings of the National Academy of Sciences | May 1986 | 3,242 |
| 32 | Integrating common and rare genetic variation in diverse human populations David Altshuler et al. · Nature | 31 Aug 2010 | 3,237 |
| 33 | Clinical use of current polygenic risk scores may exacerbate health disparities Alicia R. Martin, Masahiro Kanai, Yoichiro Kamatani et al. · Nature Genetics | 29 Mar 2019 | 3,090 |
| 34 | Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies David T. Miller et al. · The American Journal of Human Genetics | May 2010 | 2,934 |
| 35 | Detection of large-scale variation in the human genome Anthony John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics | Aug 2004 | 2,927 |
| 36 | Mapping genomic loci implicates genes and synaptic biology in schizophrenia Vassily Vladimirovich Trubetskoy et al. · Nature | 8 Apr 2022 | 2,894 |
| 37 | Strong Association of De Novo Copy Number Mutations with Autism Jonathan L. Sebat et al. · Science | 15 Mar 2007 | 2,862 |
| 38 | The contribution of de novo coding mutations to autism spectrum disorder Ivan Iossifov et al. · Nature | 29 Oct 2014 | 2,836 |
| 39 | DELLY: structural variant discovery by integrated paired-end and split-read analysis Tobias Rausch, Thomas Zichner, Andreas Schlattl et al. · Bioinformatics | 3 Sep 2012 | 2,808 |
| 40 | Tumour evolution inferred by single-cell sequencing Nicholas E. Navin, Jude Kendall, Jennifer E. Troge et al. · Nature | 13 Mar 2011 | 2,755 |
| 41 | Identification of common genetic risk variants for autism spectrum disorder Jakob Grove et al. · Nature Genetics | 25 Feb 2019 | 2,721 |
| 42 | An integrated map of structural variation in 2,504 human genomes Peter H. Sudmant et al. · Nature | 29 Sep 2015 | 2,705 |
| 43 | The roles of segmental and tandem gene duplication in the evolution of large gene families in Arabidopsis thaliana Steven B. Cannon, Arvind Mitra, Andrew M. Baumgarten et al. · BMC Plant Biology | Jun 2004 | 2,635 |
| 44 | Large-Scale Copy Number Polymorphism in the Human Genome Jonathan L. Sebat et al. · Science | 22 Jul 2004 | 2,603 |
| 45 | Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test Michael C. Wu, Seunggeun Lee, Tianxi Cai et al. · The American Journal of Human Genetics | Jul 2011 | 2,570 |
| 46 | Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21 Jeff Hall, Ming K. Lee, Beth M Newman et al. · Science | 21 Dec 1990 | 2,561 |
| 47 | To err (meiotically) is human: the genesis of human aneuploidy Terry J Hassold, Patricia A. Hunt · Nature Reviews Genetics | Apr 2001 | 2,528 |
| 48 | Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications Xiaoyu Chen, Ole B. Schulz-Trieglaff, Richard J. Shaw et al. · Bioinformatics | 8 Dec 2015 | 2,508 |
| 49 | Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development Philip J. Stephens et al. · Cell | 2011 | 2,494 |
| 50 | Circular binary segmentation for the analysis of array-based DNA copy number data Adam B. Olshen, Ennapadam S. Venkatraman, Rob Lucito et al. · Biostatistics | Oct 2004 | 2,455 |
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.