Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

Massively parallel sequencing of targeted regions, exomes, and complete genomes has begun to dramatically increase the pace of discovery of genes responsible for human disorders. Here we describe how exome sequencing in conjunction with homozygosity mapping led to rapid identification of the causati...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Walsh, Tom, Shahin, Hashem, Elkan-Miller, Tal, Lee, Ming K., Thornton, Anne M., Roeb, Wendy, Abu Rayyan, Amal, Loulus, Suheir, Avraham, Karen B., King, Mary-Claire, Kanaan, Moien
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896776/
https://ncbi.nlm.nih.gov/pubmed/20602914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.05.010
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados