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Most cited papers from Wellcome Sanger Institute

What are the most cited papers from Wellcome Sanger Institute?

The most cited paper from Wellcome Sanger Institute is "The Sequence Alignment/Map format and SAMtools" (Heng Li, Bob Handsaker, Alec Wysoker et al., 2009), with 69,061 citations. Next come "Fast and accurate short read alignment with Burrows–Wheeler transform" (63,989) and "Initial sequencing and analysis of the human genome" (24,745).

Showing 50 of 60 papers. Every paper with more than 3,475 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 The Sequence Alignment/Map format and SAMtools Heng Li, Bob Handsaker, Alec Wysoker et al. · Bioinformatics Open access 8 Jun 2009 69,061
2 Fast and accurate short read alignment with Burrows–Wheeler transform Heng Li, Richard M. Durbin · Bioinformatics Open access 18 May 2009 63,989
3 Initial sequencing and analysis of the human genome Eric S. Lander et al. · Nature Open access252 authors Feb 2001 24,745
4 A global reference for human genetic variation Corresponding authors et al. · Nature Open access815 authors 29 Sep 2015 20,444
5 An integrated encyclopedia of DNA elements in the human genome Ian Dunham et al. · Nature Open access442 authors Sep 2012 19,751
6 The variant call format and VCFtools Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics Open access 7 Jun 2011 18,317
7 Twelve years of SAMtools and BCFtools Petr Danecek, James Bonfield, Jennifer Liddle et al. · GigaScience Open access 29 Jan 2021 17,094
8 The Pfam Protein Families Database Alex Bateman · Nucleic Acids Research Open access 2002 14,221
9 Fast and accurate long-read alignment with Burrows–Wheeler transform Heng Li, Richard M. Durbin · Bioinformatics Open access 15 Jan 2010 13,151
10 A human gut microbial gene catalogue established by metagenomic sequencing Junjie Qin et al. · Nature Open access Mar 2010 11,892
11 Mutations of the BRAF gene in human cancer Helen Ruth Davies et al. · Nature Jun 2002 10,791
12 The mutational constraint spectrum quantified from variation in 141,456 humans Konrad J. Karczewski et al. · Nature Open access177 authors 27 May 2020 10,422
13 InterProScan 5: genome-scale protein function classification PHILIP M. JONES, David Binns, Hsin-Yu Chang et al. · Bioinformatics Open access 22 Jan 2014 10,355
14 Signatures of mutational processes in human cancer Australian Pancreatic Cancer Genome Initiative et al. · Nature Open access 14 Aug 2013 10,284
15 EMBOSS: The European Molecular Biology Open Software Suite Peter Rice, Ian Longden, Alan J. Bleasby · Trends in Genetics Jun 2000 10,011
16 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls Paul R. Burton et al. · Nature Open access276 authors 6 Jun 2007 9,692
17 An integrated map of genetic variation from 1,092 human genomes Gil A. McVean et al. · Nature Open access363 authors 31 Oct 2012 8,281
18 A map of human genome variation from population-scale sequencing Richard M. Durbin et al. · Nature Open access337 authors 26 Oct 2010 8,156
19 Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing Marco Gerlinger et al. · New England Journal of Medicine Open access 7 Mar 2012 7,931
20 Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence Stewart Thomas Cole et al. · Nature Open access Jun 1998 7,928
21 Initial sequencing and comparative analysis of the mouse genome Asif T. Chinwalla et al. · Nature Open access223 authors Dec 2002 7,343
22 Pfam: the protein families database ROBERT FINN, Alex Bateman, Jody Clements et al. · Nucleic Acids Research Open access 27 Nov 2013 6,604
23 The Pfam protein families database: towards a more sustainable future ROBERT FINN, Penelope C. Coggill, Ruth Y. Eberhardt et al. · Nucleic Acids Research Open access 15 Dec 2015 6,569
24 Roary: rapid large-scale prokaryote pan genome analysis Andrew J. Page, Carla A. Cummins, Martin B. Hunt et al. · Bioinformatics Open access 20 Jul 2015 6,188
25 The International HapMap Project Richard A. Gibbs et al. · Nature Open access183 authors 18 Dec 2003 6,187
26 The Genome Sequence of Drosophila melanogaster Mark D. Adams et al. · Science 195 authors 24 Mar 2000 6,049
27 Cerebral organoids model human brain development and microcephaly Madeline A. Lancaster, Magdalena Renner, Carol-Anne Martin et al. · Nature Open access 27 Aug 2013 5,545
28 Landscape of transcription in human cells Sarah Djebali et al. · Nature Open access Sep 2012 5,447
29 COSMIC: the Catalogue Of Somatic Mutations In Cancer John G. Tate et al. · Nucleic Acids Research Open access 11 Oct 2018 5,379
30 Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project Ewan Birney et al. · Nature Open access312 authors Jun 2007 5,310
31 The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression Thomas Derrien et al. · Genome Research Open access Sep 2012 5,308
32 The zebrafish reference genome sequence and its relationship to the human genome Kerstin Howe et al. · Nature Open access177 authors 16 Apr 2013 5,261
33 GENCODE: The reference human genome annotation for The ENCODE Project Jennifer Harrow et al. · Genome Research Open access Sep 2012 5,112
34 Genetic studies of body mass index yield new insights for obesity biology The LifeLines Cohort Study et al. · Nature Open access487 authors 10 Feb 2015 4,954
35 Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease Luke Jostins et al. · Nature Open access106 authors 31 Oct 2012 4,928
36 miRBase: microRNA sequences, targets and gene nomenclature Sam Griffiths‐Jones · Nucleic Acids Research Open access 28 Dec 2005 4,881
37 Drug repurposing: progress, challenges and recommendations Sudeep P. Pushpakom, Francesco Iorio, Patrick A. Eyers et al. · Nature Reviews Drug Discovery Review 12 Oct 2018 4,863
38 Richness of human gut microbiome correlates with metabolic markers Emmanuelle Le Chatelier et al. · Nature Open access 27 Aug 2013 4,843
39 The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 Annalisa Buniello et al. · Nucleic Acids Research Open access 25 Oct 2018 4,675
40 A second generation human haplotype map of over 3.1 million SNPs Sarah Shaw Murray et al. · Nature Open access211 authors Oct 2007 4,615
41 Genomic Classification and Prognosis in Acute Myeloid Leukemia Elli Papaemmanuil et al. · New England Journal of Medicine Open access 8 Jun 2016 4,520
42 Genome sequence of the human malaria parasite Plasmodium falciparum Malcolm J. Gardner et al. · Nature Open access Oct 2002 4,520
43 miRBase: tools for microRNA genomics Sam Griffiths‐Jones, Harpreet Kaur Saini, Stijn van Dongen et al. · Nucleic Acids Research Open access 8 Nov 2007 4,458
44 Genomics of Drug Sensitivity in Cancer (GDSC): a resource for therapeutic biomarker discovery in cancer cells Wanjuan Yang, Jorge Soares, Patricia Greninger et al. · Nucleic Acids Research Open access 22 Nov 2012 4,422
45 Global variation in copy number in the human genome Richard Redon et al. · Nature Open access Nov 2006 4,397
46 Life with 6000 Genes A. Goffeau, B. G. Barrell, Howard Bussey et al. · Science 25 Oct 1996 4,332
47 SARS-CoV-2 variants, spike mutations and immune escape William T. Harvey, Alessandro M. Carabelli, Ben Jackson et al. · Nature Reviews Microbiology ReviewOpen access Jun 2021 3,930
48 Human MicroRNA Targets Bino John, Anton James Enright, Alexei A. Aravin et al. · PLoS Biology Open access 30 Sep 2004 3,928
49 The repertoire of mutational signatures in human cancer Ludmil B. Alexandrov et al. · Nature Open access1,384 authors 5 Feb 2020 3,854
50 The Pfam protein families database Marco Punta, Penny C. Coggill, Ruth Y. Eberhardt et al. · Nucleic Acids Research Open access 29 Nov 2011 3,835

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 an institution when any of its authors gave it as an affiliation; 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.