Somatic Variant Detection is a computational and analytical method in clinical genomics that identifies acquired genetic alterations present in a subset of cells within an individual, typically arising from post-zygotic mutations, by distinguishing them from germline variants and technical artifacts through comparative sequencing of diseased and normal tissues.
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16.3K
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2017–2026
119
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Publications
205
Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs
Christopher T. Saunders, Wendy S.W. Wong, Sajani Swamy et al. · Bioinformatics · 2012 · 1.8K citations · Full text
Life Sciences, Genetics, Oncology +17
MYD88 L265P Somatic Mutation in Waldenström's Macroglobulinemia
Steven P. Treon, Lian Xu, Guang Yang et al. · New England Journal of Medicine · 2012 · 1.3K citations · Full text
Calling Somatic SNVs and Indels with Mutect2
David Benjamin, Takuto Sato, Kristian Cibulskis et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2019 · 759 citations · Full text
Cerebral Cavernous Malformations
Daniele Rigamonti, Mark N. Hadley, Burton P. Drayer et al. · New England Journal of Medicine · 1988 · 672 citations
Population dynamics of normal human blood inferred from somatic mutations
Henry Lee-Six, Nina Friesgaard Øbro, Mairi Shepherd et al. · Nature · 2018 · 629 citations · Full text
Life Sciences, Genetics, Hematology +16
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932
Stanford University
Stanford, United States
12 h-index
57 publications
3.2K citations
Harvard University
Cambridge, United States
12 h-index
157 publications
29.5K citations
Massachusetts General Hospital
Boston, United States
9 h-index
56 publications
5.9K citations
University of Cambridge
Cambridge, United Kingdom
9 h-index
85 publications
8.1K citations
Washington University in St. Louis
St Louis, United States
9 h-index
100 publications
7.3K citations
The University of Texas MD Anderson Cancer Center
Houston, United States
9 h-index
91 publications
4.8K citations
Boston Children's Hospital
Boston, United States
8 h-index
67 publications
9.1K citations
Broad Institute
Cambridge, United States
8 h-index
170 publications
14.4K citations
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- Journal of Molecular Diagnostics
JMD · 8 publications · 337 citations
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- PLoS ONE
7 publications · 509 citations
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- bioRxiv (Cold Spring Harbor Laboratory)
Repository · 8 publications · 859 citations
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- Scientific Reports
6 publications · 331 citations
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- Nature Communications
6 publications · 356 citations
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