Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

Volume: 102, Issue: 6, Pages: 1078 - 1089
Published: Jun 1, 2018
Abstract
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening...
Paper Details
Title
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
Published Date
Jun 1, 2018
Volume
102
Issue
6
Pages
1078 - 1089
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