Forensic evaluation of the Asia Pacific ancestry-informative MAPlex assay
| dc.contributor.affiliation | Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría | gl |
| dc.contributor.author | Xavier, Catarina | |
| dc.contributor.author | Puente Vila, María del Carmen de la | |
| dc.contributor.author | Phillips, Christopher Paul | |
| dc.contributor.author | Eduardoff, Mayra | |
| dc.contributor.author | Heidegger, A. | |
| dc.contributor.author | Mosquera Miguel, Ana | |
| dc.contributor.author | Freire Aradas, Ana María | |
| dc.contributor.author | Lagacé, Robert E. | |
| dc.contributor.author | Wootton, Sharon Chao | |
| dc.contributor.author | Power, Daniel | |
| dc.contributor.author | Parson, Walther | |
| dc.contributor.author | Lareu Huidobro, María Victoria | |
| dc.contributor.author | Daniel, Runa | |
| dc.date.accessioned | 2021-01-19T14:28:08Z | |
| dc.date.available | 2021-01-19T14:28:08Z | |
| dc.date.issued | 2020 | |
| dc.description.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 | gl |
| dc.description.peerreviewed | SI | gl |
| dc.description.sponsorship | MdlP is supported by a postdoctoral fellowship awarded by the Consellería de Cultura, Educación e Ordenación Universitaria and the Consellería de Economía, Emprego e Industria from Xunta de Galicia (Modalidade A, ED481B 2017/088). CP, AFA, AMM, MdlP, MVL are supported by MAPA, Multiple Allele Polymorphism Analysis (BIO2016-78525-R), a research project funded by the Spanish Research State Agency (AEI), and co-financed with ERDF funds. AFA is supported by a post-doctorate grant funded by the Consellería de Cultura, Educación e Ordenación Universitaria e da Consellería de Economía, Emprego e Industria from Xunta de Galicia, Spain (Modalidade B, ED481B 2018/010). The 1000 Genomes high coverage sequence data were generated at the New York Genome Center with funds provided by NHGRI Grant 3UM1HG008901-03S1 | gl |
| dc.identifier.citation | Forensic Science International: Genetics, Volume 48, September 2020, 102344 | gl |
| dc.identifier.doi | 10.1016/j.fsigen.2020.102344 | |
| dc.identifier.issn | 1872-4973 | |
| dc.identifier.uri | http://hdl.handle.net/10347/24242 | |
| dc.language.iso | eng | gl |
| dc.publisher | Elsevier | gl |
| dc.relation.publisherversion | https://doi.org/10.1016/j.fsigen.2020.102344 | gl |
| dc.rights | © 2020 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/) | gl |
| dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | |
| dc.rights.accessRights | open access | gl |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.subject | Biogeographical ancestry estimation | gl |
| dc.subject | Asia-Pacific populations | gl |
| dc.subject | Massive parallel sequencing | gl |
| dc.subject | Ion S5 sequencing | gl |
| dc.title | Forensic evaluation of the Asia Pacific ancestry-informative MAPlex assay | gl |
| dc.type | journal article | gl |
| dc.type.hasVersion | VoR | gl |
| dspace.entity.type | Publication | |
| relation.isAuthorOfPublication | 01f310f5-a326-4d6e-9656-0034b67a41a0 | |
| relation.isAuthorOfPublication | 6320e31a-29c8-47b5-8c8b-f234200cf297 | |
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| relation.isAuthorOfPublication | 50e24b5d-7ecd-4ec6-a7b6-7c13b54c370c | |
| relation.isAuthorOfPublication.latestForDiscovery | 01f310f5-a326-4d6e-9656-0034b67a41a0 |
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