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BioMed Central, Genome Medicine, 9(5), p. 89

DOI: 10.1186/gm492

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

Journal article published in 2013 by Reuben J. Pengelly, Jane Gibson, Gaia Andreoletti, Andrew Collins ORCID, Christopher J. Mattocks, Sarah Ennis
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.