Forensic evaluation of the Asia Pacific ancestry-informative MAPlex assay

C Xavier; M de la Puente; C Phillips; M Eduardoff; A Heidegger; A Mosquera-Miguel; A Freire-Aradas; R Lagace; S Wootton; D Power; W Parson; M V Lareu; R Daniel

doi:10.1016/j.fsigen.2020.102344

Forensic evaluation of the Asia Pacific ancestry-informative MAPlex assay

Forensic Sci Int Genet. 2020 Sep:48:102344. doi: 10.1016/j.fsigen.2020.102344. Epub 2020 Jun 20.

Authors

C Xavier¹, M de la Puente², C Phillips³, M Eduardoff⁴, A Heidegger⁴, A Mosquera-Miguel³, A Freire-Aradas³, R Lagace⁵, S Wootton⁵, D Power⁶, W Parson⁷, M V Lareu³, R Daniel⁸

Affiliations

¹ Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: catarina.gomes@i-med.ac.at.
² Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain.
³ Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain.
⁴ Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria.
⁵ Human Identification Group, Thermo Fisher Scientific, CA, USA.
⁶ Thermo Fisher Scientific, Victoria, Australia.
⁷ Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, University Park, PA, USA.
⁸ Office of the Chief Forensic Scientist, Forensic Services Department, Victoria Police, Macleod, Australia; National Centre for Forensic Studies, Faculty of Science & Technology, University of Canberra, ACT, Australia.

PMID: 32615397
DOI: 10.1016/j.fsigen.2020.102344

Abstract

DNA intelligence, and particularly the inference of biogeographical ancestry (BGA) is increasing in interest, and relevance within the forensic genetics community. The majority of current MPS-based forensic ancestry-informative assays focus on the differentiation of major global populations. The recently published MAPlex (Multiplex for the Asia Pacific) panel contains 144 SNPs and 20 microhaplotypes and aims to improve the differentiation of populations in the Asia Pacific region. This study reports the first forensic evaluation of the MAPlex panel using AmpliSeq technology and Ion S5 sequencing. This study reports on the overall performance of MAPlex including the assay's sequence coverage distribution and stability, baseline noise and description of problematic SNPs. Dilution series, artificially degraded and mixed DNA samples were also analysed to evaluate the sensitivity of the panel with challenging or compromised forensic samples. As the first panel to combine biallelic SNPs, multiple-allele SNPs and microhaplotypes, the MAPlex assay demonstrated an enhanced capacity for mixture detection, not easily performed with common binary SNPs. This performance evaluation indicates that MAPlex is a robust, stable and highly sensitive assay that is applicable to forensic casework for the prediction of BGA.

Keywords: Asia-Pacific populations; Biogeographical ancestry estimation; Ion S5 sequencing; Massive parallel sequencing.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics*
Gene Frequency
Genetics, Population*
Genotype
Haplotypes
High-Throughput Nucleotide Sequencing*
Humans
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Sequence Analysis, DNA

Grants and funding

UM1 HG008901/HG/NHGRI NIH HHS/United States