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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:BMC Genomics
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2015
Schlagworte:
Research Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge