Article
A comprehensive strategy for exome-based preconception carrier screening.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2017
Sallevelt Suzanne C E H, de Koning Bart, Szklarczyk Radek, Paulussen Aimee D C, de Die-Smulders Christine E M, Smeets Hubert J M
Abstract excerpt
PURPOSE: Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations. METHODS: Our strategy was developed using WES data from eight consanguineous and five fictive nonconsanguineous couples and was subsequently applied to 20 other fictive nonconsanguineous couples....
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