TY - JOUR AU - Park, Gibeom AU - Gim, Jungsoo AU - Kim, Ah Reum AU - Han, Kyu-Hee AU - Kim, Hyo-Sang AU - Oh, Seung-Ha AU - Park, Taesung AU - Park, Woong-Yang AU - Choi, Byung Yoon PY - 2013 DA - 2013/03/18 TI - Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family JO - BMC Genomics SP - 191 VL - 14 IS - 1 AB - 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). SN - 1471-2164 UR - https://doi.org/10.1186/1471-2164-14-191 DO - 10.1186/1471-2164-14-191 ID - Park2013 ER -