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Article

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

BMC genomics - 18 Mar 2013

Park Gibeom, Gim Jungsoo, Kim Ah Reum, Han Kyu-Hee, Kim Hyo-Sang, Oh Seung-Ha, Park Taesung, Park Woong-Yang, Choi Byung Yoon

Abstract excerpt

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 efficient discovery of mutations causing nonsyndromic hearing loss (NSHL). RESULTS: From WES data, we identified five...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23506231
DOI: 10.1186/1471-2164-14-191
PMCID: PMC3608096

Genes

ACTG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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