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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genetic Lingo01:11

Genetic Lingo

Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Related Experiment Video

Updated: May 15, 2026

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 25, 2016

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

Kyle R Taylor1, Adam P Deluca, A Eliot Shearer

  • 1Department of Electrical and Computer Engineering, University of Iowa, Iowa City, IA, USA.

Human Mutation
|January 3, 2013
PubMed
Summary

AudioGene, a machine-learning tool, predicts the genetic cause of hearing loss using audiogram data. It achieves 68% accuracy, aiding genetic counseling and personalized medicine for autosomal dominant nonsyndromic hearing loss.

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Last Updated: May 15, 2026

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

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Published on: January 25, 2016

Enhanced Cochlear Coverage and Hearing Preservation in High-Frequency Hearing Loss via Electric Acoustic Stimulation with Longer Electrode
03:49

Enhanced Cochlear Coverage and Hearing Preservation in High-Frequency Hearing Loss via Electric Acoustic Stimulation with Longer Electrode

Published on: October 11, 2024

Area of Science:

  • Genetics
  • Bioinformatics
  • Audiology

Background:

  • Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a prevalent, progressive sensory impairment with significant genetic heterogeneity.
  • Genetic testing is crucial for counseling and prognosis in ADNSHL patients.

Purpose of the Study:

  • To introduce AudioGene, a machine-learning software system designed to predict the genetic cause of ADNSHL.
  • To evaluate AudioGene's accuracy and robustness using audiometric data.

Main Methods:

  • Development of a machine-learning algorithm (AudioGene) that analyzes phenotypic data from audiograms.
  • Comparison of AudioGene's predictive accuracy against a majority classifier.
  • Assessment of AudioGene's performance with noisy audiometric data.

Main Results:

  • AudioGene achieved 68% accuracy in predicting the causative gene within the top three predictions, outperforming a majority classifier (44%).
  • The system demonstrated effectiveness even with audiograms containing significant clinical measurement noise.
  • Identification of audiometric outliers for specific genetic loci, suggesting potential modifying genetic effects.

Conclusions:

  • AudioGene offers a cost-effective and accurate method for predicting the genetic basis of ADNSHL from audiometric data.
  • The software can assist in genetic counseling and provide prognostic insights.
  • AudioGene is poised to become a valuable tool in personalized genomic medicine for variant interpretation in hearing loss.