Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

BACKGROUND: Copy number variants (CNVs) play a significant role in human heredity and disease. However, sensitive and specific characterization of germline CNVs from NGS data has remained challenging, particularly for hybridization-capture data in which read counts are the primary source of copy num...

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Detalles Bibliográficos
Autores principales: O’Fallon, Brendan, Durtschi, Jacob, Kellogg, Ana, Lewis, Tracey, Close, Devin, Best, Hunter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297596/
https://www.ncbi.nlm.nih.gov/pubmed/35854218
http://dx.doi.org/10.1186/s12859-022-04820-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297596/
https://www.ncbi.nlm.nih.gov/pubmed/35854218
http://dx.doi.org/10.1186/s12859-022-04820-w

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