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...

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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2010
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Online Zugang: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
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