Exome and genome sequencing in reproductive medicine

Exome and genome sequencing in reproductive medicine The advent of next-generation sequencing has enabled clinicians to assess many genes simultaneously and at high resolution. This is advantageous for diagnosing patients in whom a genetic disorder is suspected but who have a nonspecific or atypical phenotype or when the disorder has significant genetic heterogeneity. Herein, we describe common clinical applications of next-generation sequencing technology, as well as their respective benefits and limitations. We then discuss key considerations of variant interpretation and reporting, clinical utility, pre- and posttest genetic counseling, and ethical challenges. We will present these topics with an emphasis on their applicability to the reproductive medicine setting. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Fertility and Sterility Elsevier

Exome and genome sequencing in reproductive medicine

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Publisher
Elsevier
Copyright
Copyright © 2017 American Society for Reproductive Medicine
ISSN
0015-0282
D.O.I.
10.1016/j.fertnstert.2017.12.010
Publisher site
See Article on Publisher Site

Abstract

The advent of next-generation sequencing has enabled clinicians to assess many genes simultaneously and at high resolution. This is advantageous for diagnosing patients in whom a genetic disorder is suspected but who have a nonspecific or atypical phenotype or when the disorder has significant genetic heterogeneity. Herein, we describe common clinical applications of next-generation sequencing technology, as well as their respective benefits and limitations. We then discuss key considerations of variant interpretation and reporting, clinical utility, pre- and posttest genetic counseling, and ethical challenges. We will present these topics with an emphasis on their applicability to the reproductive medicine setting.

Journal

Fertility and SterilityElsevier

Published: Feb 1, 2018

References

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