Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

BACKGROUND: The genetic heterogeneity of sensorineural hearing loss is a major hurdle to the efficient discovery of disease-causing genes. We designed a multiphasic analysis of copy number variation (CNV), linkage, and single nucleotide variation (SNV) of whole exome sequencing (WES) data for the ef...

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Hlavní autoři: Park, Gibeom, Gim, Jungsoo, Kim, Arheum, Han, Kyu-Hee, Kim, Hyo-Sang, Oh, Seung-Ha, Park, Taesung, Park, Woong-Yang, Choi, ByungYoon
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3608096/
https://ncbi.nlm.nih.gov/pubmed/23506231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-14-191
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