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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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| Główni autorzy: | , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Elsevier
2010
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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