Quantitative Assessment of Parental Somatic Mosaicism for Copy‐Number Variant (CNV) Deletions

As genome sequencing methodologies have become more sensitive in detecting low‐frequency rare‐variant events, the link between post‐zygotic mutagenesis and somatic mosaicism in the etiology of several human genetic conditions other than cancers has become more clear. Given that current clinical‐genomics diagnostic methods have limited detection sensitivity for mosaic events, a copy‐number variant (CNV) deletion inherited from a parent with...