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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Detalles Bibliográficos
Autores principales: Laver, Thomas W., De Franco, Elisa, Johnson, Matthew B., Patel, Kashyap A., Ellard, Sian, Weedon, Michael N., Flanagan, Sarah E., Wakeling, Matthew N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959187/
https://www.ncbi.nlm.nih.gov/pubmed/35294448
http://dx.doi.org/10.1371/journal.pcbi.1009940

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8959187/
https://www.ncbi.nlm.nih.gov/pubmed/35294448
http://dx.doi.org/10.1371/journal.pcbi.1009940

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