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Related Concept Videos

Carrier Generation and Recombination01:22

Carrier Generation and Recombination

Carrier generation is the process by which electron-hole pairs (EHPs) are created within the semiconductor. In direct-bandgap semiconductors, such as gallium arsenide (GaAs), this occurs efficiently when energy absorption prompts valence electrons to leap into the conduction band, leaving behind holes.
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Indirect generation involves an...
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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...
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Next-generation Sequencing03:00

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Related Experiment Video

Updated: May 10, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Next-generation carrier screening.

Mark A Umbarger1, Caleb J Kennedy1, Patrick Saunders1

  • 1Good Start Genetics, Cambridge, Massachusetts, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|June 15, 2013
PubMed
Summary
This summary is machine-generated.

This study introduces a next-generation DNA sequencing method for comprehensive carrier screening. The new approach accurately detects a wider range of disease-causing mutations than traditional methods.

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Published on: August 17, 2022

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Traditional carrier screening relies on targeted genotyping for common mutations within specific ethnic groups.
  • This approach has limitations in detecting the full spectrum of disease-causing mutations.

Purpose of the Study:

  • To develop a next-generation DNA sequencing workflow for comprehensive carrier screening.
  • To enable analysis of a broader range of disease-causing mutations compared to existing methods.

Main Methods:

  • Utilized molecular inversion probes to capture coding regions of 15 genes.
  • Sequenced captured regions using Illumina HiSeq 2000.
  • Developed a novel assembly-based algorithm for improved insertion and deletion detection.

Main Results:

  • Achieved high-quality sequencing (>99.8% targeted base pairs).
  • Demonstrated high concordance with Sanger sequencing (sensitivity >99.9%, specificity >99.999%).
  • Novel algorithm successfully detected insertions and deletions missed by current methods.

Conclusions:

  • The developed next-generation sequencing approach provides the necessary accuracy and completeness for carrier screening.
  • This method offers a more comprehensive alternative to traditional carrier screening techniques.