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Allele-specific copy-number discovery from whole-genome and whole-exome sequencing

Copy-number variants (CNVs) are a major form of genetic variation and a risk factor for various human diseases, so it is crucial to accurately detect and characterize them. It is conceivable that allele-specific reads from high-throughput sequencing data could be leveraged to both enhance CNV detect...

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Detalles Bibliográficos
Autores principales: Wang, WeiBo, Wang, Wei, Sun, Wei, Crowley, James J., Szatkiewicz, Jin P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538801/
https://www.ncbi.nlm.nih.gov/pubmed/25883151
http://dx.doi.org/10.1093/nar/gkv319