EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

ConclusionsWe estimate that ~  1% of CHD probands have a mosaic variant detectable in blood that could contribute to cardiac malformations, particularly those damaging variants with relatively higher allele fraction. Although blood is a readily available DNA source, cardiac tissues analyzed contributed ~ 5% of somatic mosaic variants identified, indicating the value of tissue mosaicism analyses.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research