Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.
Sabrina Y CampEric KofmanBrendan ReardonNathanael D MooreAbdullah M Al-RubaishMohammed AljumaanAmein K Al-AliEliezer M Van AllenAmaro Taylor-WeinerSaud H AlDubayanPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Our analysis of the standard germline variant detection method highlighted a substantial impact of concurrently analyzing additional genomic data sets on the ability to detect clinically relevant germline pathogenic variants.