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MAPlex - A massively parallel sequencing ancestry analysis multiplex for Asia-Pacific populations
C Phillips1, D McNevin2, K K Kidd3
1Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain.
Forensic Science International. Genetics
|August 5, 2019
Summary
A new forensic tool, MAPlex (Multiplex for the Asia-Pacific), enhances population differentiation in Asia. This assay improves ancestry analysis for East Asian, South Asian, and Near Oceanian groups.
Area of Science:
- Forensic Genetics
- Population Genetics
- Genomic Analysis
Background:
- Current forensic ancestry-informative panels struggle with precise population differentiation in the Asia-Pacific region.
- Complex admixture patterns in the Asia-Pacific necessitate improved genetic tools for accurate forensic analysis.
Purpose of the Study:
- To develop and evaluate MAPlex (Multiplex for the Asia-Pacific), a novel massively parallel sequencing (MPS) assay.
- To enhance the differentiation of East Asian, South Asian, and Near Oceanian populations using advanced genetic markers.
Main Methods:
- Selection of single nucleotide polymorphisms (SNPs) combined with microhaplotype markers for the MAPlex assay.
- Assay design focused on reducing microhaplotype lengths while maintaining ancestry-informativeness.
- Utilized population-informative multiple-allele SNPs and compiled extensive reference population genotypes from whole-genome sequence data.
Main Results:
- MAPlex demonstrates improved differentiation of South Asian populations compared to existing forensic SNP panels.
- The assay effectively distinguishes between West Eurasian, South Asian, and East Asian populations.
- MAPlex efficiently differentiates Middle Eastern individuals from Europeans and shows potential for mixed-source DNA analysis.
Conclusions:
- MAPlex represents a significant advancement in forensic genetic analysis for the Asia-Pacific region.
- The assay's combination of binary and multiple-allele SNPs with microhaplotypes offers enhanced discriminatory power.
- MAPlex provides a valuable tool for identifying ancestry in forensic investigations involving diverse populations.
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