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.
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
Reuben J
RJ
Pengelly
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
Jane
J
Gibson
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
Gaia
G
Andreoletti
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
Andrew
A
Collins
National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury SP2 8BJ, UK.
Christopher J
CJ
Mattocks
Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
Sarah
S
Ennis