Cheek swabs, SNP chips, and CNVs: Assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping microarray

Cheek swabs, SNP chips, and CNVs: Assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping microarray

<p>Abstract</p> <p>Background</p> <p>Multiple investigators have established the feasibility of using buccal brush samples to genotype single nucleotide polymorphisms (SNPs) with high-density genome-wide microarrays, but there is currently no consensus on the accuracy o...

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Bibliographic Details
Main Authors: Erickson Stephen W, MacLeod Stewart L, Hobbs Charlotte A
Format: Article
Language:English
Published: BMC 2012-06-01
Series:BMC Medical Genetics
Subjects:
SNPs, Single nucleotide polymorphisms
CNVs, Copy number variants
NBDPS, National Birth Defects Prevention Study
Buccal brush
Online Access:http://www.biomedcentral.com/1471-2350/13/51

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