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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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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
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The generation of electrical current in semiconductors is fundamentally driven by two mechanisms: drift and diffusion. These processes are essential for the functionality and performance of semiconductor-based devices.
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Carrier-mediated transport is a pivotal process in drug absorption, particularly for lipid-insoluble drugs, and encompasses facilitated diffusion and active transport. Facilitated diffusion allows drugs to move along their concentration gradient without energy expenditure, while active transport utilizes ATP to drive drug movement against this gradient.
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Next-generation Sequencing03:00

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Next-generation carrier screening: are we ready?

Thomas W Prior1

  • 1Department of Pathology, Ohio State University, Neil Avenue, Columbus, OH 43210 USA.

Genome Medicine
|December 5, 2014
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) significantly expands carrier screening capabilities, offering accurate and cost-effective genetic testing. However, challenges remain in patient education and genetic counseling to ensure effective implementation.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Reproductive Health

Background:

  • Carrier screening is crucial for identifying individuals who carry genetic mutations for inherited disorders.
  • Traditional screening methods have limitations in scope and efficiency.
  • Advancements in sequencing technology offer potential improvements.

Purpose of the Study:

  • To evaluate the impact of Next-Generation Sequencing (NGS) on carrier screening.
  • To assess the analytical accuracy and cost-effectiveness of NGS for carrier screening.
  • To identify challenges associated with implementing NGS in carrier screening programs.

Main Methods:

  • Utilized Next-Generation Sequencing (NGS) methodology for genetic analysis.
  • Compared NGS performance against established carrier screening protocols.
  • Conducted cost-effectiveness and analytical accuracy assessments.

Main Results:

  • NGS methodology enables a significant expansion of current carrier screening tests.
  • NGS testing demonstrates analytical accuracy.
  • NGS testing is cost-effective.
  • Key challenges involve patient education and genetic counseling.

Conclusions:

  • NGS represents a powerful tool for enhancing carrier screening.
  • The analytical accuracy and cost-effectiveness of NGS are established.
  • Addressing educational and counseling challenges is vital for successful NGS implementation in carrier screening.