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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Detalhes bibliográficos
Main Authors: Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science (PLoS) 2022-03-01
Colecção:PLoS Computational Biology
Acesso em linha:https://doi.org/10.1371/journal.pcbi.1009940
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