کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8779758 | 1600047 | 2018 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Exome and genome sequencing in reproductive medicine
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
زنان، زایمان و بهداشت زنان
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چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Fertility and Sterility - Volume 109, Issue 2, February 2018, Pages 213-220
Journal: Fertility and Sterility - Volume 109, Issue 2, February 2018, Pages 213-220
نویسندگان
Elizabeth A. Ph.D., Joseph T. Ph.D., Ignatia B. M.D.,