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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...
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 17, 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

Applying Genomic Analysis to Newborn Screening.

B D Solomon1, D E Pineda-Alvarez, K A Bear

  • 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md., USA.

Molecular Syndromology
|November 1, 2012
PubMed
Summary
This summary is machine-generated.

Whole-exome sequencing (WES) can augment newborn screening by identifying genetic variants. While this study found no disease-causing variants in screened children, it revealed carrier information for potential future reproductive planning.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Related Experiment Videos

Last Updated: May 17, 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

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Area of Science:

  • Genomics
  • Clinical Genetics
  • Bioinformatics

Background:

  • Large-scale genomic sequencing is increasingly used in research.
  • Potential clinical applications include enhancing newborn screening programs.

Purpose of the Study:

  • To explore the utility of whole-exome sequencing (WES) for augmenting newborn screening.
  • To analyze WES data from children with normal newborn screens for relevant genetic variants.

Main Methods:

  • Examined WES data from 3 children with normal newborn screens.
  • Analyzed 151 selected genes associated with newborn screening conditions.
  • Confirmed novel variants and assessed copy number variations.

Main Results:

  • Detected an average of 87 genetic variants per individual.
  • 96% of variants were known and non-pathogenic.
  • Identified 6 known and 2 novel variants indicating carrier status for potential offspring conditions.

Conclusions:

  • Genomic testing, like WES, can provide valuable carrier information beyond current newborn screening.
  • WES has the potential to augment newborn screening by identifying actionable genetic insights for reproductive planning.