S-Space College of Medicine/School of Medicine (의과대학/대학원) Anatomy (해부학전공) Journal Papers (저널논문_해부학전공)
A synergistic interaction between transcription factors nuclear factor-kB and signal transducers and activators of transcription 3 promotes gastric cancer cell migration and invasion
- Yoon, Jiyeon; Cho, Sung Jin; Ko, Young San; Park, Jinju; Shin, Dong Hoon; Hwang, In Chan; Han, Sang Yeun; Nam, Seon Young; Kim, Min A; Chang, Mee Soo; Lee, Hye Seung; Kim, Woo Ho; Lee, Byung Lan
- Issue Date
- BioMed Central
- BMC Gastroenterolog, vol.13 no.29
- 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)Pathology (병리학전공)Journal Papers (저널논문_병리학전공)
College of Medicine/School of Medicine (의과대학/대학원)Dept. of Medicine (의학과)Journal Papers (저널논문_의학과)
College of Medicine/School of Medicine (의과대학/대학원)Anatomy (해부학전공)Journal Papers (저널논문_해부학전공)