Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool.


Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
22 08 2021
Historique:
received: 21 07 2021
revised: 18 08 2021
accepted: 18 08 2021
entrez: 27 8 2021
pubmed: 28 8 2021
medline: 4 2 2022
Statut: epublish

Résumé

We detail the development of the ancestry informative single nucleotide polymorphisms (SNPs) panel forming part of the VISAGE Basic Tool (BT), which combines 41 appearance predictive SNPs and 112 ancestry predictive SNPs (three SNPs shared between sets) in one massively parallel sequencing (MPS) multiplex, whereas blood-based age analysis using methylation markers is run in a parallel MPS analysis pipeline. The selection of SNPs for the BT ancestry panel focused on established forensic markers that already have a proven track record of good sequencing performance in MPS, and the overall SNP multiplex scale closely matched that of existing forensic MPS assays. SNPs were chosen to differentiate individuals from the five main continental population groups of Africa, Europe, East Asia, America, and Oceania, extended to include differentiation of individuals from South Asia. From analysis of 1000 Genomes and HGDP-CEPH samples from these six population groups, the BT ancestry panel was shown to have no classification error using the Bayes likelihood calculators of the

Identifiants

pubmed: 34440458
pii: genes12081284
doi: 10.3390/genes12081284
pmc: PMC8391248
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Références

Forensic Sci Int Genet. 2019 Nov;43:102152
pubmed: 31518964
Forensic Sci Int Genet. 2020 Sep;48:102344
pubmed: 32615397
Am J Hum Genet. 2007 Jun;80(6):1171-8
pubmed: 17503334
Mol Ecol. 2005 Jul;14(8):2611-20
pubmed: 15969739
Forensic Sci Int Genet. 2015 Sep;18:49-65
pubmed: 26013312
Forensic Sci Int Genet. 2014 Jul;11:13-25
pubmed: 24631693
Forensic Sci Int Genet. 2020 Jan;44:102200
pubmed: 31760353
Nature. 2016 Oct 13;538(7624):238-242
pubmed: 27654910
Mol Ecol Resour. 2015 Sep;15(5):1179-91
pubmed: 25684545
Bioinformatics. 2010 Feb 1;26(3):419-20
pubmed: 20080509
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Forensic Sci Int Genet. 2020 May;46:102232
pubmed: 31986343
Forensic Sci Int Genet. 2014 May;10:23-32
pubmed: 24508742
Forensic Sci Int Genet. 2013 Jan;7(1):98-115
pubmed: 22917817
Hum Genet. 2017 Jul;136(7):847-863
pubmed: 28500464
Forensic Sci Int Genet. 2019 Sep;42:260-267
pubmed: 31404905
Int J Legal Med. 2017 Jul;131(4):901-912
pubmed: 27995319
Nat Commun. 2014 Dec 02;5:5631
pubmed: 25463651
Forensic Sci Int Genet. 2020 Sep;48:102336
pubmed: 32619960
Science. 2020 Mar 20;367(6484):
pubmed: 32193295
Forensic Sci Int Genet. 2019 Nov;43:102141
pubmed: 31442930
Forensic Sci Rev. 2017 Jul;29(2):121-144
pubmed: 28691915
Forensic Sci Int Genet. 2011 Jun;5(3):170-80
pubmed: 20457092
Nature. 2016 Oct 13;538(7624):201-206
pubmed: 27654912
Forensic Sci Int Genet. 2016 Jan;20:71-80
pubmed: 26517174
PLoS Genet. 2012;8(3):e1002554
pubmed: 22412386
Forensic Sci Int Genet. 2013 May;7(3):359-66
pubmed: 23537756
Forensic Sci Int Genet. 2019 Sep;42:213-226
pubmed: 31377479
Genome Res. 2009 Sep;19(9):1655-64
pubmed: 19648217
Genes (Basel). 2020 Jun 26;11(6):
pubmed: 32604780
Genetics. 2000 Jun;155(2):945-59
pubmed: 10835412
Int J Legal Med. 2018 Nov;132(6):1581-1594
pubmed: 29556719
Forensic Sci Int Genet. 2015 Sep;18:33-48
pubmed: 25716572

Auteurs

María de la Puente (M)

Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Jorge Ruiz-Ramírez (J)

Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Adrián Ambroa-Conde (A)

Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Catarina Xavier (C)

Institute of Legal Medicine, Medical University of Innsbruck, 6020 Innsbruck, Austria.

Jacobo Pardo-Seco (J)

Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, 15706 Santiago de Compostela, Spain.

Jose Álvarez-Dios (J)

Faculty of Mathematics, University of Santiago de Compostela, 15705 Santiago de Compostela, Spain.

Ana Freire-Aradas (A)

Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Ana Mosquera-Miguel (A)

Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Theresa E Gross (TE)

Institute of Legal Medicine, Faculty of Medicine and University Clinic, University of Cologne, 50823 Cologne, Germany.
Hessisches Landeskriminalamt, 65187 Wiesbaden, Germany.

Elaine Y Y Cheung (EYY)

Institute of Legal Medicine, Faculty of Medicine and University Clinic, University of Cologne, 50823 Cologne, Germany.

Wojciech Branicki (W)

Malopolska Centre of Biotechnology, Jagiellonian University, 30-387 Kraków, Poland.

Michael Nothnagel (M)

Cologne Center for Genomics, University of Cologne, 50823 Cologne, Germany.
University Hospital Cologne, 50937 Cologne, Germany.

Walther Parson (W)

Institute of Legal Medicine, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Forensic Science Program, The Pennsylvania State University, University Park, State College, PA 16802, USA.

Peter M Schneider (PM)

Institute of Legal Medicine, Faculty of Medicine and University Clinic, University of Cologne, 50823 Cologne, Germany.

Manfred Kayser (M)

Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, 3015 CN Rotterdam, South Holland, The Netherlands.

Ángel Carracedo (Á)

Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.
Fundación Pública Galega de Medicina Xenómica (FPGMX), 15706 Santiago de Compostela, Spain.

Maria Victoria Lareu (MV)

Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Christopher Phillips (C)

Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

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Classifications MeSH