Details:

Alternative Title:
BMC Med Genet
Publisher's site:
http://dx.doi.org/10.1186/1471-2350-13-51
Personal Author:
Erickson, Stephen W ; MacLeod, Stewart L ; Hobbs, Charlotte A
Erickson, Stephen W ; MacLeod, Stewart L ; Hobbs, Charlotte A Less -
Description:
Background

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 of copy number variants (CNVs) inferred from these data. Regardless of the source of DNA, it is more difficult to detect CNVs than to genotype SNPs using these microarrays, and it therefore remains an open question whether buccal brush samples provide enough high-quality DNA for this purpose.

Methods

To demonstrate the quality of CNV calls generated from DNA extracted from buccal samples, compared to calls generated from blood samples, we evaluated the concordance of calls from individuals who provided both sample types. The Illumina Human660W-Quad BeadChip was used to determine SNPs and CNVs of 39 Arkansas participants in the National Birth Defects Prevention Study (NBDPS), including 16 mother-infant dyads, who provided both whole blood and buccal brush DNA samples.

Results

We observed a 99.9% concordance rate of SNP calls in the 39 blood–buccal pairs. From the same dataset, we performed a similar analysis of CNVs. Each of the 78 samples was independently segmented into regions of like copy number using the Optimal Segmentation algorithm of Golden Helix SNP & Variation Suite 7.

Conclusions

We observed performance from the subject-collected mail-in buccal brush samples comparable to that of blood. These results show that such DNA samples can be used for genome-wide scans of both SNPs and CNVs, and that high rates of CNV concordance were achieved whether using a change-point-based algorithm or one based on a hidden Markov model (HMM).


Subject:
[+]
Adult Algorithms Analytic Sample Preparation Methods Buccal Brush Cheek Child CNVs, Copy Number Variants DNA DNA Copy Number Variations Female Genome-Wide Association Study Genotyping Techniques Humans Male NBDPS, National Birth Defects Prevention Study Oligonucleotide Array Sequence Analysis Polymorphism, Single Nucleotide Postal Service Research Article SNPs, Single Nucleotide Polymorphisms
Source:
BMC Med Genet. 2012; 13:51.
Pubmed ID:
22734463
Pubmed Central ID:
PMC3506514
Document Type:
Journal Article
Funding:
3-U50DD613236-10W1/DD/NCBDD CDC HHS/United States ; 5-R01-HD039054-08/HD/NICHD NIH HHS/United States
3-U50DD613236-10W1/DD/NCBDD CDC HHS/United States ; 5-R01-HD039054-08/HD/NICHD NIH HHS/United States Less -
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:3511cb033014d7ea5fedf4eedfe116433f9686af078afc2b9ebdc1f8ed5e5620
Download URL:
https://stacks.cdc.gov/view/cdc/22666/cdc_22666_DS1.pdf
File Type:

Supporting Files

• 	license.txt	txt
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