Article
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
American journal of human genetics - 6 Apr 2023
Truty Rebecca, Rojahn Susan, Ouyang Karen, Kautzer Curtis, Kennemer Michael, Pineda-Alvarez Daniel, Johnson Britt, Stafford Amanda, Basel-Salmon Lina, Saitta Sulagna, Slavotinek Anne, Chandrasekharappa Settara C, Suarez Carlos Jose, Burnett Leslie, Nussbaum Robert L, Aradhya Swaroop
Abstract excerpt
DNA variants that arise after conception can show mosaicism, varying in presence and extent among tissues. Mosaic variants have been reported in Mendelian diseases, but further investigation is necessary to broadly understand their incidence, transmission, and clinical impact. A mosaic pathogenic variant in a disease-related gene may cause an atypical phenotype in terms of severity, clinical features, or timing...
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