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WIREs Forensic Sci

Forensic inference of biogeographical ancestry from genotype: The Genetic Ancestry Lab

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Abstract Short tandem repeat (STR) profiling of DNA has become ubiquitous in forensic practice and is used to associate people, objects, and places with each other and with crimes. STRs can include or exclude a suspect or victim as the donor of biological evidence. In the absence of a matching profile, however, STRs have limited value. It is possible, then, to extract other information from the DNA that might lead forensic investigators to an offender. Examples include biogeographical ancestry (BGA) and externally visible characteristics (EVCs). These require alternative genetic markers including single nucleotide polymorphisms and microhaplotypes which can be genotyped on many different platforms including capillary electrophoresis, microarrays, and massively parallel sequencing (MPS). The Genetic Ancestry Lab (GAL) in Australia provides estimates of BGA and EVCs derived from DNA that is extracted from biological evidence and then subjected to targeted amplicon enrichment and subsequent MPS. This review will describe the process of BGA prediction employed by the GAL as well as describing alternative practices. Limitations are addressed and future directions highlighted, including resolution of genetic admixture. It is highly likely that inference of BGA will become standard forensic practice, performed simultaneously with or in addition to STR profiling, and it is hoped that this review might provide a road map. This article is categorized under: Forensic Anthropology > Ancestry Determination Forensic Science in Action/Crime Scene Investigation > From Traces to Intelligence and Evidence Forensic Biology > Ancestry Determination using DNA Methods Forensic Biology > Forensic DNA Technologies
Pedigree over two generations showing males (squares, with both a Y chromosome and mtDNA) and females (circles, with no Y chromosome). Colors of lineage markers indicate ancestral origin (gray represents a lineage marker that is not passed on to grandchildren). Colors inside squares and circles represent the proportions of autosomal DNA inherited from each of the four grandparents
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Expected heterozygosity of admixed offspring as a function of allele frequencies in parents' populations. Offspring heterozygosity will always be greater than heterozygosities in parents' populations when allele frequencies in parents' populations are not equal
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(a) Combinations of red, green, and blue that produce cyan, magenta, and yellow. (b) A third generation paint produced from red and cyan paint parents. (c) The same paint produced from magenta and yellow paint parents. (d) The same paint produced from paint parents and grandparents of the same color
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Summary plot of estimates of Q. each individual genotype is represented by a single vertical line broken into K colored segments, with lengths proportional to genetic contributions from each of the K inferred clusters. The numbers (1, 2 and 3) correspond to reference populations (Pritchard, Wen & Falush, )
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Three dimensional (3D) MDS plot. Individual points represent genotypes. Colors represent self‐declared BGAs of the genotype donors ( African, European, South Asian, East Asian, American, Oceanian). The lone black point is an unknown genotype that sits with the green cluster or cloud and therefore is predicted to share BGA with East Asians
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Forensic Anthropology > Ancestry Determination
Forensic Science in Action/Crime Scene Investigation > From Traces to Intelligence and Evidence
Forensic Biology > Ancestry Determination using DNA Methods
Forensic Biology > Forensic DNA Technologies

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