SavvyCNV: Genome-wide CNV calling from off-target reads.

Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNVs outside their target area. We present SavvyCNV,...

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Auteurs principaux: Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling
Format: Artigo
Langue:Inglês
Publié: Public Library of Science (PLoS) 2022-03-01
Collection:PLoS Computational Biology
Accès en ligne:https://doi.org/10.1371/journal.pcbi.1009940
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