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A SNP profiling panel for sample tracking in whole-exome sequencing studies.

ABSTRACT: Whole-exome sequencing provides a cost-effective means to sequence protein coding regions within the genome, which are significantly enriched for etiological variants. We describe a panel of single nucleotide polymorphisms (SNPs) to facilitate the validation of data provenance in whole-exome sequencing studies. This is particularly significant where multiple processing steps necessitate transfer of sample custody between clinical, laboratory and bioinformatics facilities. SNPs captured by all commonly used exome enrichment kits were identified, and filtered for possible confounding properties. The optimised panel provides a simple, yet powerful, method for the assignment of intrinsic, highly discriminatory identifiers to genetic samples.

SUBMITTER: Pengelly RJ

PROVIDER: S-EPMC3978886 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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A SNP profiling panel for sample tracking in whole-exome sequencing studies.

Pengelly Reuben J RJ Gibson Jane J Andreoletti Gaia G Collins Andrew A Mattocks Christopher J CJ Ennis Sarah S

Genome medicine 20130927 9

Whole-exome sequencing provides a cost-effective means to sequence protein coding regions within the genome, which are significantly enriched for etiological variants. We describe a panel of single nucleotide polymorphisms (SNPs) to facilitate the validation of data provenance in whole-exome sequencing studies. This is particularly significant where multiple processing steps necessitate transfer of sample custody between clinical, laboratory and bioinformatics facilities. SNPs captured by all co ...[more]

PMID: 24070238

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