A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

ConclusionsIn sum, an estimated 1.5% of all molecular diagnoses made in this cohort could be attributed to a mosaic variant detected in the proband, while parental mosaicism was identified in 0.3% of families analyzed. As ES design favors breadth over depth of coverage, this estimate of the prevalence of mosaic variants likely represents an underestimate of the total number of clinically relevant mosaic variants in our cohort.

Source: Genome Medicine - July 25, 2019 Category: Genetics & Stem Cells Source Type: research