%0 Journal Article
%T Exome and genome sequencing in reproductive medicine - Fertility and Sterility
%A Elizabeth A. Norm
%A Ignatia B. Van den Veyver
%A Joseph T. Alaimo
%J Fertility and Sterility
%D 2018
%R https://doi.org/10.1016/j.fertnstert.2017.12.010
%X 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.
%U https://www.fertstert.org/article/S0015-0282(17)32126-X/fulltext