Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.
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ABSTRACT:
SUBMITTER: Markello TC
PROVIDER: S-EPMC3309164 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Publications
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.
Markello Thomas C TC Carlson-Donohoe Hannah H Sincan Murat M Adams David D Bodine David M DM Farrar Jason E JE Vlachos Adrianna A Lipton Jeffrey M JM Auerbach Arleen D AD Ostrander Elaine A EA Chandrasekharappa Settara C SC Boerkoel Cornelius F CF Gahl William A WA
Molecular genetics and metabolism 20111224 4
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 dise ...[more]
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