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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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Pubblicato in:BMC Genomics
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
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Accesso online: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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