title: Building a forensic ancestry panel from the ground up: The EUROFORGEN Global AIM-SNP set.
abstract: Emerging next-generation sequencing technologies will enable DNA analyses to add pigmentation predictive and ancestry informative (AIM) SNPs to the range of markers detectable from a single PCR test. This prompted us to re-appraise current forensic and genomics AIM-SNPs and from the best sets, to identify the most divergent markers for a five population group differentiation of Africans, Europeans, East Asians, Native Americans and Oceanians by using our own online genome variation browsers. We prioritized careful balancing of population differentiation across the five group comparisons in order to minimize bias when estimating co-ancestry proportions in individuals with admixed ancestries. The differentiation of European from Middle East or South Asian ancestries was not chosen as a characteristic in order to concentrate on introducing Oceanian differentiation for the first time in a forensic AIM set. We describe a complete set of 128 AIM-SNPs that have near identical population-specific divergence across five continentally defined population groups. The full set can be systematically reduced in size, while preserving the most informative markers and the balance of population-specific divergence in at least four groups. We describe subsets of 88, 55, 28, 20 and 12 AIMs, enabling both new and existing SNP genotyping technologies to exploit the best markers identified for forensic ancestry analysis.
authors.affiliation: Forensic Genetics Unit, Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, ES-15705 Santiago de Compostela, Galicia, Spain. Electronic address: c.phillips@mac.com.
authors.forename: C
authors.initials: C
authors.lastname: Phillips
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Müllerstrasse 44, A-6020 Innsbruck, Austria; Penn State Eberly College of Science, University Park, PA, USA.
authors.forename: W
authors.initials: W
authors.lastname: Parson
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Frederik V's Vej 11, DK-2100 Copenhagen, Denmark.
authors.forename: B
authors.initials: B
authors.lastname: Lundsberg
authors.affiliation: Forensic Genetics Unit, Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, ES-15705 Santiago de Compostela, Galicia, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Santos
authors.affiliation: Forensic Genetics Unit, Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, ES-15705 Santiago de Compostela, Galicia, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Freire-Aradas
authors.affiliation: Grupo de Medicina Xenómica (GMX), Faculty of Medicine, University of Santiago de Compostela, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Torres
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Müllerstrasse 44, A-6020 Innsbruck, Austria.
authors.forename: M
authors.initials: M
authors.lastname: Eduardoff
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Frederik V's Vej 11, DK-2100 Copenhagen, Denmark.
authors.forename: C
authors.initials: C
authors.lastname: Børsting
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Frederik V's Vej 11, DK-2100 Copenhagen, Denmark.
authors.forename: P
authors.initials: P
authors.lastname: Johansen
authors.affiliation: Forensic Genetics Unit, Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, ES-15705 Santiago de Compostela, Galicia, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Fondevila
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Frederik V's Vej 11, DK-2100 Copenhagen, Denmark.
authors.forename: N
authors.initials: N
authors.lastname: Morling
authors.affiliation: Institute of Legal Medicine, University Hospital Cologne, D-50823 Cologne, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Schneider
authors.affiliation: Forensic Genetics Unit, Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, ES-15705 Santiago de Compostela, Galicia, Spain; Grupo de Medicina Xenómica (GMX), Faculty of Medicine, University of Santiago de Compostela, Spain; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
authors.affiliation: Forensic Genetics Unit, Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, ES-15705 Santiago de Compostela, Galicia, Spain.
authors.forename: M V
authors.initials: MV
authors.lastname: Lareu
mesh_terms: D053803:Forensic Genetics; D005789:Genealogy and Heraldry; D006801:Humans; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
keywords: 1000 Genomes; AIMs; Forensic ancestry analysis; HGDP-CEPH; SNPs; SPSmart