Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

BACKGROUND: The debate regarding the relative merits of whole genome sequencing (WGS) versus exome sequencing (ES) centers around comparative cost, average depth of coverage for each interrogated base, and their relative efficiency in the identification of medically actionable variants from the myri...

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Detalles Bibliográficos
Autores principales: Lupski, James R, Gonzaga-Jauregui, Claudia, Yang, Yaping, Bainbridge, Matthew N, Jhangiani, Shalini, Buhay, Christian J, Kovar, Christie L, Wang, Min, Hawes, Alicia C, Reid, Jeffrey G, Eng, Christine, Muzny, Donna M, Gibbs, Richard A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706849/
https://www.ncbi.nlm.nih.gov/pubmed/23806086
http://dx.doi.org/10.1186/gm461

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706849/
https://www.ncbi.nlm.nih.gov/pubmed/23806086
http://dx.doi.org/10.1186/gm461

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