Next generation of carrier screening

Anastasia Fedick, Jinglan Zhang

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Preconception or prenatal carrier screening is an effective approach for preventing devastating recessive diseases. Traditionally, DNA-based carrier testing used targeted genotyping panels to detect common mutations among specific ethnic groups. While the sensitivity of this approach is generally acceptable, private or ultra-rare mutations will be missed. Next generation sequencing (NGS) has been adopted in recent years for carrier screening in order to increase test sensitivity for pan-ethnic individuals. Important issues regarding NGS-based carrier screening panels' workflow design, variant interpretation, reporting, and genetic counseling follow-ups are reviewed and discussed in this chapter.

Original languageEnglish
Title of host publicationNext Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
PublisherSpringer International Publishing
Pages339-354
Number of pages16
ISBN (Electronic)9783319564180
ISBN (Print)9783319564166
DOIs
StatePublished - 15 May 2017

Keywords

  • Carrier screening
  • Next generation sequencing

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