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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. However, this a...

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Dettagli Bibliografici
Pubblicato in:PLoS Comput Biol
Autori principali: Talevich, Eric, Shain, A. Hunter, Botton, Thomas, Bastian, Boris C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4839673/
https://ncbi.nlm.nih.gov/pubmed/27100738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1004873
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