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Completion of a worldwide reference panel of samples for an ancestry informative Indel assay

Santos, Carla et al.

Forensic science international. Genetics. Volume 17: (2015, July); pp 75-80 -- Elsevier Science

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  • Title:
    Completion of a worldwide reference panel of samples for an ancestry informative Indel assay
  • Author: Santos, Carla;
    Phillips, Christopher;
    Oldoni, Fabio;
    Amigo, Jorge;
    Fondevila, Manuel;
    Pereira, Rui;
    Carracedo, Ángel;
    Lareu, Maria Victoria
  • Found In: Forensic science international. Genetics. Volume 17: (2015, July); pp 75-80
  • Journal Title: Forensic science international. Genetics
  • Subjects: Génétique légale--Périodiques; Forensic genetics--Periodicals; Forensic genetics; Periodicals; AIM-Indels--Central South Asia--Middle East--HGDP–CEPH; Electronic journals; Dewey: 614.1
  • Rights: Licensed
  • Publication Details: Elsevier Science
  • Abstract: Graphical abstract Highlights Completion of the H952 HGDP–CEPH panel genotyping with 46 AIM-Indels. The 46 AIM-Indels have the capability to differentiate six major population groups. Characterization of a novel third allele in MID-548 that appears to be confined to Central South Asian populations. Genotypes and frequency data can be accessed in a new online browser: forInDel . Abstract The use of ancestry informative markers (AIMs) in forensic analysis is of considerable utility since ancestry inference can progress an investigation when no identification has been made of DNA from the crime-scene. Short-amplicon markers, including insertion deletion polymorphisms, are particularly useful in forensic analysis due to their mutational stability, capacity to amplify degraded samples and straightforward amplification technique. In this study we report the completion of H952 HGDP–CEPH panel genotyping with a set of 46 AIM-Indels. The study adds Central South Asian and Middle Eastern population data, allowing a comparison of patterns of variation in Eurasia for these markers, in order to enhance their use in forensic analyses, particularly when combined with sets of ancestry informative SNPs. Ancestry analysis using principal component analysis and Bayesian methods indicates that a proportion of classification error occurs with European–Middle East population comparisons, but the 46 AIM-Indels have the capability to differentiate six major population groups when European–Central South Asian comparisons are made. These findings have relevance for forensic ancestry analyses in countries where South Asians form much of the demographic profile, including the UK, USA and South Africa. A novel third allele detected in MID-548 was characterized – despite a low frequency in the HGDP–CEPH panel samples, it appears confined to Central South Asian populations, increasing the ability to differentiate this population group. The H952 data set was implemented in a new open access SPSmart frequency browser – forInDel: Forensic Indel browser .
  • Identifier: System Number: ETOCvdc_100081780211.0x000001; Journal ISSN: 1872-4973; 10.1016/j.fsigen.2015.03.011
  • Publication Date: 2015
  • Physical Description: Electronic
  • Shelfmark(s): 3987.764050
  • UIN: ETOCvdc_100081780211.0x000001

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