TY - JOUR
T1 - Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function
AU - Markello, Thomas C.
AU - Carlson-Donohoe, Hannah
AU - Sincan, Murat
AU - Adams, David
AU - Bodine, David M.
AU - Farrar, Jason E.
AU - Vlachos, Adrianna
AU - Lipton, Jeffrey M.
AU - Auerbach, Arleen D.
AU - Ostrander, Elaine A.
AU - Chandrasekharappa, Settara C.
AU - Boerkoel, Cornelius F.
AU - Gahl, William A.
PY - 2012/4
Y1 - 2012/4
N2 - 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.
AB - 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.
KW - Array comparative genomic hybridization
KW - CGH
KW - Continuous Distribution Function
KW - DANFIP
KW - Distribution Analysis by Fitting Integrated Probabilities
KW - Mosaicism
UR - http://www.scopus.com/inward/record.url?scp=84858701976&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84858701976&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2011.12.015
DO - 10.1016/j.ymgme.2011.12.015
M3 - Article
C2 - 22277120
AN - SCOPUS:84858701976
SN - 1096-7192
VL - 105
SP - 665
EP - 671
JO - Molecular genetics and metabolism
JF - Molecular genetics and metabolism
IS - 4
ER -