Open AccessClinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes
Author(s) -
Shinya Nishio,
Yoshiharu Hayashi,
Manabu Watanabe,
Shinichi Usami
Publication year - 2015
Publication title -
genetic testing and molecular biomarkers
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.405
H-Index - 47
eISSN - 1945-0265
pISSN - 1945-0257
DOI - 10.1089/gtmb.2014.0252
Subject(s) - ion semiconductor sequencing , genetic testing , massive parallel sequencing , personal genomics , genetics , mutation , dna sequencing , biology , genetic heterogeneity , population , computational biology , gene , bioinformatics , whole genome sequencing , genome , medicine , phenotype , environmental health
Congenital hearing loss is one of the most common sensory disorders, with 50-70% of cases attributable to genetic causes. Although recent advances in the identification of deafness genes have resulted in more accurate molecular diagnosis, leading to the better determination of suitable clinical interventions, difficulties remain with regard to clinical applications due to the extreme genetic heterogeneity of deafness.