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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659195/
https://www.ncbi.nlm.nih.gov/pubmed/26602380
http://dx.doi.org/10.1186/s12864-015-2107-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659195/
https://www.ncbi.nlm.nih.gov/pubmed/26602380
http://dx.doi.org/10.1186/s12864-015-2107-y

Ejemplares similares