A comprehensive strategy for exome-based preconception carrier screening
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DOI: 10.1038/gim.2016.153
Abstract: 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… read more here.
Keywords: preconception carrier; carrier screening; nonconsanguineous couples; exome ... See more keywords