SXTestPlate
SXTestPlate evaluates genotype concordance of test plates typed using the SNPlex system by comparing observed genotypes to a predefined control set of single-nucleotide polymorphisms (SNPs) to support quality control in high-throughput genotyping.
Key Features:
- Genotype Concordance Evaluation: Assesses accuracy and reliability of genotyping by comparing observed genotypes on test plates to a known control SNP set and flagging discrepancies.
- Compatibility with Other Genotyping Methods: Applicable to outputs from the SNPlex system and can be used with data from other genotyping methodologies.
- Integration with GeneMapper: Operates in conjunction with Applied Biosystems' GeneMapper software for processing SNPlex raw data and downstream analysis.
Scientific Applications:
- Quality Control for SNPlex Genotyping: Provides routine QC assessment of test plates typed on the SNPlex platform.
- Genetic Association Studies: Ensures genotype accuracy for datasets used in association analyses.
- Population Genetics: Validates genotype calls for population structure and diversity studies.
- Personalized Medicine: Verifies genotyping data used in applications related to individualized genetic assessment.
Methodology:
Performs systematic examination of genotype concordance on test plates by leveraging a predefined control SNP set to identify discrepancies between expected and observed genotypes and report automated QC results.
Topics
Details
- Tool Type:
- desktop application
- Operating Systems:
- Windows
- Programming Languages:
- SQL
- Added:
- 8/3/2017
- Last Updated:
- 11/25/2024
Operations
Publications
Teuber M, Wenz MH, Schreiber S, Franke A. GMFilter and SXTestPlate: software tools for improving the SNPlex™ genotyping system. BMC Bioinformatics. 2009;10(1). doi:10.1186/1471-2105-10-81. PMID:19267942. PMCID:PMC2661053.