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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
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Related Experiment Video

Updated: May 10, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Advancing genetic testing for deafness with genomic technology.

A Eliot Shearer1, E Ann Black-Ziegelbein, Michael S Hildebrand

  • 1Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

Journal of Medical Genetics
|June 28, 2013
PubMed
Summary
This summary is machine-generated.

This study introduces a new genetic testing method for non-syndromic hearing loss (NSHL), achieving a 42% diagnostic rate. The findings guide future genetic diagnosis strategies for hearing impairment.

Keywords:
deafnesshearing lossmassively parallel sequencingsequence capturetargeted genomic enrichment

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Area of Science:

  • Genetics
  • Audiology
  • Molecular Biology

Background:

  • Non-syndromic hearing loss (NSHL) is a common human sensory impairment with significant genetic heterogeneity.
  • Previous genetic testing for NSHL was limited due to its complexity.
  • Advancements in sequencing technology enable more comprehensive genetic analysis.

Purpose of the Study:

  • To establish optimized targeted genomic enrichment (TGE) and massively parallel sequencing (MPS) protocols for NSHL genetic diagnosis.
  • To determine sequencing requirements for maximum variant sensitivity and define quality metrics for variant validation.
  • To assess the diagnostic yield of TGE-MPS in a cohort of 100 individuals with presumed genetic NSHL.

Main Methods:

  • DNA from 100 probands with presumed genetic NSHL was analyzed.
  • Targeted genomic enrichment (TGE) with post-capture multiplexing was performed, followed by Illumina sequencing.
  • Bioinformatics analysis was conducted using a local Galaxy installation on a high-performance computing cluster.

Main Results:

  • Approximately 3.2-6.3 million mapped sequencing reads per sample were required for maximum variant sensitivity.
  • Sanger validation was unnecessary for 95% of variants based on quality score analysis.
  • An overall diagnostic rate of 42% was achieved, with variations based on clinical presentation (e.g., 56% for bilateral autosomal recessive NSHL).

Conclusions:

  • The study provides a framework for utilizing TGE and MPS strategies in NSHL genetic diagnosis.
  • The diagnostic rate underscores the need for further research into novel gene discovery and non-exonic mutations in genetic deafness.
  • Unsolved cases represent a valuable resource for future research in genetic hearing loss.