Welcome to AudioGene v4.0

New Visualization Features

AudioGene is a supervised support vector machine learning algorithm that uses audiometric data to predict genotypes. It allows users to move from the phenome to the genome, and as such, it is a valuable resource for predicting concordance between audiograms and variants identified by comprehensive genetic screening panels in persons with hearing loss.

AudioGene can also be used to define audioprofile surfaces (APS). An APS is a novel method of representing audiometric data that incorporates age as the third dimension. In addition to frequency and decibels, age is included to show average hearing thresholds over time for gene-specific types of hearing loss. For example, the KCNQ4 APS shows average thresholds over time for persons with KCNQ4-related hearing loss. By using APSs, a clinician can provide to a person with a specific genetic type of hearing loss, a direct comparison of how that person’s hearing thresholds compare to expected thresholds for that gene.

Gene-specific APSs can also be studied using hierarchical surface clustering (HSC) to determine whether sub-clusters provide a better ‘fit’ for the data. HSC was developed as a tool to explore whether novel subclasses should be considered. Using KCNQ4 again as an example, HSC identifies two slightly different sub-clusters, one associated with deafness-causing missense variants and the other associated with deafness-causing nonsense variants. HSC is a valuable tool to identify patient subgroups that likely reflect the presence of genetic modifiers.

Hildebrand MS, DeLuca AP, Taylor KR, Hoskinson DP, Hur IA, Tack D, McMordie SJ, Huygen PL, Casavant TL, Smith RJ. A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss. Laryngoscope. 2009 Nov;119(11):2211-5. doi: 10.1002/lary.20664. PMID: 19780026

Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL. AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening. Hum Mutat. 2013 Apr;34(4):539-45. doi: 10.1002/humu.22268. Epub 2013 Feb 19. PMID: 23280582

Taylor KR, Booth KT, Azaiez H, Sloan CM, Kolbe DL, Glanz EN, Shearer AE, DeLuca AP, Anand VN, Hildebrand MS, Simpson AC, Eppsteiner RW, Scheetz TE, Braun TA, Huygen PL, Smith RJ, Casavant TL. Audioprofile Surfaces: The 21st Century Audiogram. Ann Otol Rhinol Laryngol. 2016 May;125(5):361-8. doi: 10.1177/0003489415614863. Epub 2015 Nov 3. PMID: 26530094

Any questions or feedback can be sent to audiogene@eng.uiowa.edu.