Journal article
AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening
KR Taylor, AP Deluca, AE Shearer, MS Hildebrand, EA Black-Ziegelbein, VN Anand, CM Sloan, RW Eppsteiner, TE Scheetz, PLM Huygen, RJH Smith, TA Braun, TL Casavant
Human Mutation | Published : 2013
DOI: 10.1002/humu.22268
Abstract
Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a common and often progressive sensory deficit. ADNSHL displays a high degree of genetic heterogeneity and varying rates of progression. Accurate, comprehensive, and cost-effective genetic testing facilitates genetic counseling and provides valuable prognostic information to affected individuals. In this article, we describe the algorithm underlying AudioGene, a software system employing machine-learning techniques that utilizes phenotypic information derived from audiograms to predict the genetic cause of hearing loss in persons segregating ADNSHL. Our data show that AudioGene has an accuracy of 68% in predicting the causative gene wi..
View full abstractGrants
Awarded by National Institute on Deafness and Other Communication Disorders
Funding Acknowledgements
Contract grant sponsors: NIDCD (DC02842, DC012049, T32 DC00040, F30 DC011674); NHMRC Postdoctoral Training Fellowship (546493).