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

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....

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Detalles Bibliográficos
Autores principales: Erickson, Stephen W, MacLeod, Stewart L, Hobbs, Charlotte A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506514/
https://www.ncbi.nlm.nih.gov/pubmed/22734463
http://dx.doi.org/10.1186/1471-2350-13-51

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