Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Emilie LalondeJessica EbrahimzadehKeith RaffertyJennifer Richards-YutzRichard GrantErik ToorensJennifer Marie RosadoErica SchindewolfTapan GangulyJennifer M KalishMatthew A DeardorffArupa GangulyPublished in: Molecular genetics & genomic medicine (2019)
Next-generation sequencing has enabled sensitive detection of somatic pathogenic variants associated with overgrowth conditions. However, as the pathogenic variant allele frequency varies by tissue type within an individual, submission of affected tissue(s) greatly increases the chances of a molecular diagnosis.