Journal
MOLECULAR GENETICS AND METABOLISM
Volume 105, Issue 4, Pages 665-671Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2011.12.015
Keywords
Mosaicism; Continuous Distribution Function; Distribution Analysis by Fitting Integrated; Probabilities; DANFIP; CGH; Array comparative genomic hybridization
Funding
- National Human Genome Research Institute
- NIH [K08 HL092224]
- [RO1 HL 079571]
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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 mosaic-ism throughout the genome. We also demonstrate application of the method to novel diseases and mechanisms. Published by Elsevier Inc.
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