The use of whole-exome sequencing to disentangle complex phenotypes

The success of whole-exome sequencing to identify mutations causing single-gene disorders has been well documented. In contrast whole-exome sequencing has so far had limited success in the identification of variants causing more complex phenotypes that seem unlikely to be due to the disruption of a...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Williams, Hywel J, Hurst, John R, Ocaka, Louise, James, Chela, Pao, Caroline, Chanudet, Estelle, Lescai, Francesco, Stanescu, Horia C, Kleta, Robert, Rosser, Elisabeth, Bacchelli, Chiara, Beales, Philip
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4717198/
https://ncbi.nlm.nih.gov/pubmed/26059842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.121
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