Medicine is rapidly applying exome and genome sequencing to the diagnosis and management of human disease. Somatic mosaicism, however, is not readily detectable by these means, and yet it accounts for a significant portion of undiagnosed disease. We present a rapid and sensitive method, the Continuous Distribution Function as applied to single nucleotide polymorphism (SNP) array data, to quantify somatic mosaicism throughout the genome. We also demonstrate application of the method to novel diseases and mechanisms.
- Array comparative genomic hybridization
- Continuous Distribution Function
- Distribution Analysis by Fitting Integrated Probabilities
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Molecular Biology