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

lijanan33 添加于 2015-5-23 21:47 | 1511 次阅读 | 0 个评论

作者
Pengelly RJ, Gibson J, Andreoletti G, Collins A, Mattocks CJ, Ennis S
摘要
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.
详细资料
- 文献种类: Journal Article
- 期刊名称: Genome Medicine
- 期刊缩写: Genome Med
- 期卷页: 2013年第5卷第9期 89页
- 地址: Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK
- ISBN: 1756-994X
学科领域生物医药 » 基础医学
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