ArticleGenome medicine2013
A SNP profiling panel for sample tracking in whole-exome sequencing studies.
Article in Genome medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 41 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
41 citing papers in PubMed.
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- Citywide premarital genomic screening in a Middle Eastern population.Nature medicine · 2026Article
- Method development for pancreatic and ovarian cancer baseline ctDNA detection and measurable residual disease monitoring.Open research Europe · 2026Article
- Rare and common variants in ERAP1 and ERAP2 selected for in response to Yersinia pestis infection contribute to autoimmune disease including inflammatory bowel disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Comprehensive DNA profiling strategy for patient-derived xenograft model authentication in the J-PDX library.Scientific reports · 2025Article
- Screening a new set of microhaplotypes in exonic regions for sample identity testing and paternity testing during whole exome sequencing analysis.International journal of legal medicine · 2025Article
- Article
- Genetic sex validation for sample tracking in next-generation sequencing clinical testing.BMC research notes · 2024Article
- Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples.BMC genomics · 2024Article
- Genomic screening methodology not requiring barcoding: Single nucleotide polymorphism-based, mixed-cell screening (SMICS).Genomics · 2023Article
- Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker.Inflammatory bowel diseases · 2023Article
- Distinct clonal identities of B-ALLs arising after lenolidomide therapy for multiple myeloma.Blood advances · 2023Article
- Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.Nature communications · 2021Article
- Authentication, characterization and contamination detection of cell lines, xenografts and organoids by barcode deep NGS sequencing.NAR genomics and bioinformatics · 2020Article
- Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.Clinical chemistry · 2020Article
- SMaSH: Sample matching using SNPs in humans.BMC genomics · 2019Article
- CCMG practice guideline: laboratory guidelines for next-generation sequencing.Journal of medical genetics · 2019Article
- Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.Scientific reports · 2018Article
- Expansion of airway basal epithelial cells from primary human non-small cell lung cancer tumors.International journal of cancer · 2018Article
- Sample tracking in microbiome community profiling assays using synthetic 16S rRNA gene spike-in controls.Scientific reports · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.