Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

BACKGROUND: Whole-exome sequencing (WES) is rapidly evolving into a tool of choice for rapid, and inexpensive identification of molecular genetic lesions within targeted regions of the human genome. While biases in WES coverage of nucleotides in targeted regions are recognized, it is not well unders...

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Detalhes bibliográficos
Publicado no:BMC Genomics
Main Authors: Cherukuri, Praveen F., Maduro, Valerie, Fuentes-Fajardo, Karin V., Lam, Kevin, Adams, David R., Tifft, Cynthia J., Mullikin, James C., Gahl, William A., Boerkoel, Cornelius F.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4659195/
https://ncbi.nlm.nih.gov/pubmed/26602380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-015-2107-y
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