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Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Park, Gibeom | - |
dc.contributor.author | Gim, Jungsoo | - |
dc.contributor.author | Kim, Ah Reum | - |
dc.contributor.author | Han, Kyu-Hee | - |
dc.contributor.author | Kim, Hyo-Sang | - |
dc.contributor.author | Oh, Seung-Ha | - |
dc.contributor.author | Park, Taesung | - |
dc.contributor.author | Park, Woong-Yang | - |
dc.contributor.author | Choi, Byung Yoon | - |
dc.date.accessioned | 2013-05-29T04:49:20Z | - |
dc.date.available | 2013-05-29T04:49:20Z | - |
dc.date.issued | 2013-03-18 | - |
dc.identifier.citation | BMC Genomics, vol.14 no.191 | - |
dc.identifier.issn | 1471-2164 | - |
dc.identifier.uri | http://www.biomedcentral.com/1471-2164/14/191 | - |
dc.identifier.uri | https://hdl.handle.net/10371/82526 | - |
dc.description.abstract | 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 distinct CNV loci from a NSHL family, but they were not co-segregated among patients. Linkage analysis based on SNVs identified six candidate loci (logarithm of odds [LOD] >1.5). We selected 15 SNVs that co-segregated with NSHL in the family, which were located in six linkage candidate loci. Finally, the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant. Conclusions: Here, we present a multiphasic CNV, linkage, and SNV analysis of WES data for the identification of a candidate mutation causing NSHL. Our stepwise, multiphasic approach enabled us to expedite the discovery of disease-causing variants from a large number of patient variants. | ko_KR |
dc.description.sponsorship | This study was supported by a grant from the Korea Healthcare Technology
R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea (No. A111377 to B.Y. Choi and No A120017 to W.-Y. Park) and Seoul National University Bundang Hospital research fund (06-2011-124 to B. Y. Choi) | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BioMed Central | - |
dc.subject | Hearing loss | ko_KR |
dc.subject | Copy number variation | ko_KR |
dc.subject | Linkage analysis | ko_KR |
dc.subject | Single nucleotide variation | ko_KR |
dc.subject | Mutation analysis | ko_KR |
dc.title | Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 박기범 | - |
dc.contributor.AlternativeAuthor | 김정수 | - |
dc.contributor.AlternativeAuthor | 김아름 | - |
dc.contributor.AlternativeAuthor | 한규희 | - |
dc.contributor.AlternativeAuthor | 김효상 | - |
dc.contributor.AlternativeAuthor | 오승하 | - |
dc.contributor.AlternativeAuthor | 박태성 | - |
dc.contributor.AlternativeAuthor | 박융양 | - |
dc.contributor.AlternativeAuthor | 최병윤 | - |
dc.identifier.doi | 10.1186/1471-2164-14-191 | - |
dc.language.rfc3066 | en | - |
dc.description.version | Peer Reviewed | - |
dc.rights.holder | Gibeom Park et al.; licensee BioMed Central Ltd. | - |
dc.date.updated | 2013-04-30T10:38:21Z | - |
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