A SNP profiling panel for sample tracking in whole-exome sequencing studies
A SNP profiling panel for sample tracking in whole-exome sequencing studies
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
1-7
Pengelly, Reuben
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Gibson, Jane
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Andreoletti, Gaia
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Collins, Andrew
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Mattocks, Christopher J.
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Ennis, Sarah
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Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Gibson, Jane
855033a6-38f3-4853-8f60-d7d4561226ae
Andreoletti, Gaia
75cfc74e-f938-48c8-b3d5-5b377297d008
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Mattocks, Christopher J.
2d943111-cfdf-4f0d-9ecc-0737e541fe36
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Pengelly, Reuben, Gibson, Jane, Andreoletti, Gaia, Collins, Andrew, Mattocks, Christopher J. and Ennis, Sarah
(2013)
A SNP profiling panel for sample tracking in whole-exome sequencing studies.
Genome Medicine, 5 (9), .
(doi:10.1186/gm492).
(PMID:24070238)
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
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gm492
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e-pub ahead of print date: 27 September 2013
Organisations:
Human Development & Health
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Local EPrints ID: 358064
URI: http://eprints.soton.ac.uk/id/eprint/358064
PURE UUID: e0a8db49-cc24-457b-9f7f-81b33d869573
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Date deposited: 04 Oct 2013 13:43
Last modified: 15 Mar 2024 03:48
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Author:
Gaia Andreoletti
Author:
Christopher J. Mattocks
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