S-Space College of Natural Sciences (자연과학대학) Program in Bioinformatics (협동과정-생물정보학전공) Journal Papers (저널논문_협동과정-생물정보학전공)
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family
- Park, Gibeom; Gim, Jungsoo; Kim, Ah Reum; Han, Kyu-Hee; Kim, Hyo-Sang; Oh, Seung-Ha; Park, Taesung; Park, Woong-Yang; Choi, Byung Yoon
- Issue Date
- BioMed Central
- BMC Genomics, vol.14 no.191
- Hearing loss; Copy number variation; Linkage analysis; Single nucleotide variation; Mutation analysis
- 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.
- Appears in Collections:
- College of Medicine/School of Medicine (의과대학/대학원)Dept. of Medicine (의학과)Journal Papers (저널논문_의학과)
College of Natural Sciences (자연과학대학)Program in Brain Science (협동과정-뇌과학전공)Journal Papers (저널논문_협동과정-뇌과학전공)
College of Natural Sciences (자연과학대학)Program in Bioinformatics (협동과정-생물정보학전공)Journal Papers (저널논문_협동과정-생물정보학전공)