title: 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.
authors.affiliation: Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, MD 20892-1851, USA. markellot@mail.nih.gov
authors.forename: Thomas C
authors.initials: TC
authors.lastname: Markello
authors.forename: Hannah
authors.initials: H
authors.lastname: Carlson-Donohoe
authors.forename: Murat
authors.initials: M
authors.lastname: Sincan
authors.forename: David
authors.initials: D
authors.lastname: Adams
authors.forename: David M
authors.initials: DM
authors.lastname: Bodine
authors.forename: Jason E
authors.initials: JE
authors.lastname: Farrar
authors.forename: Adrianna
authors.initials: A
authors.lastname: Vlachos
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Lipton
authors.forename: Arleen D
authors.initials: AD
authors.lastname: Auerbach
authors.forename: Elaine A
authors.initials: EA
authors.lastname: Ostrander
authors.forename: Settara C
authors.initials: SC
authors.lastname: Chandrasekharappa
authors.forename: Cornelius F
authors.initials: CF
authors.lastname: Boerkoel
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D015894:Genome, Human; D006801:Humans; D009030:Mosaicism; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*