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Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.

Abstract：

: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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Markello TC,Carlson-Donohoe H,Sincan M,Adams D,Bodine DM,Farrar JE,Vlachos A,Lipton JM,Auerbach AD,Ostrander EA,Chandrasekharappa SC,Boerkoel CF,Gahl WA

doi

10.1016/j.ymgme.2011.12.015

subject

Has Abstract

pub_date

2012-04-01 00:00:00

pages

665-71

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(11)00655-X

journal_volume

105

pub_type

杂志文章

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