NDLI: Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data.

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Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data.

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Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Phillips, C. Amigo, J. Carracedo, Á. Lareu, M. V.
Description	Author Affiliation: Phillips C ( Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain. Electronic address: c.phillips@mac.com.); Amigo J ( Grupo de Medicina Xenómica (GMX), Faculty of Medicine, University of Santiago de Compostela, Spain.); Carracedo Á ( Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain); Lareu MV ( Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Spain.)
Abstract	Multiple-allele single nucleotide polymorphisms (SNPs) are potentially useful for forensic DNA analysis as they can provide more discrimination power than normal binary SNPs. In addition, the presence in a profile of more than two alleles per marker provides a clearer indication of mixed DNA than assessments of imbalanced signals in the peak pairs of binary SNPs. Using the 1000 Genomes Phase III human variant data release of 2014 as the starting point, this study collated 961 tetra-allelic SNPs that pass minimum sequence quality thresholds and where four separate nucleotide substitution alleles were detected. Although most of these loci had three of the four alleles in combined frequencies of 2% or less, 160 had high heterozygosities with 50 exceeding those of 'ideal' 0.5:0.5 binary SNPs. From this set of most polymorphic tetra-allelic SNPs, we identified markers most informative for forensic purposes and explored these loci in detail. Subsets of the most polymorphic tetra-allelic SNPs will make useful additions to current panels of forensic identification SNPs and ancestry-informative SNPs. The 24 most discriminatory tetra-allelic SNPs were estimated to detect more than two alleles in at least one marker per profile in 99.9% of mixtures of African contributors. In European contributor mixtures 99.4% of profiles would show multiple allele patterns, but this drops to 92.6% of East Asian contributor mixtures due to reduced levels of polymorphism for the 24 SNPs in this population group.
File Format	HTM / HTML
ISSN	18724973
Journal	Forensic Science International: Genetics
Volume Number	19
e-ISSN	18780326
Language	English
Publisher	Elsevier
Publisher Date	2015-11-01
Publisher Place	Netherlands
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Forensic Sciences Alleles Forensic Genetics Genetic Markers Genome, Human Polymorphism, Single Nucleotide Humans Journal Article Validation Studies
Content Type	Text
Resource Type	Article
Subject	Genetics Pathology and Forensic Medicine

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