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Current and Emerging Trends in Human Identification and Molecular Anthropology

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New genomic technologies have already had an immense impact on the study of all areas of human genetic diversity including forensics. Major improvements in diverse forensic areas ranging from prenatal parentage testing to biographic ancestry determination are now within our grasp. The new generation of ...

New genomic technologies have already had an immense impact on the study of all areas of human genetic diversity including forensics. Major improvements in diverse forensic areas ranging from prenatal parentage testing to biographic ancestry determination are now within our grasp. The new generation of sequencing technologies has allowed additional information to be gleaned from traditional forensic genetic markers (STRs, mtDNA, Indels, SNPs) and their analyses. For example, SNP-based microhaplotypes are a new type of marker made possible by sequencing. These new technologies and knowledge being accumulated allow accurate DNA-based inference of key physical traits of a given individual. Not only DNA analyses already allow the unique assignment of a given sample to a single individual, but now also they enable estimation of the basic physical characteristics (eye/hair/skin color, age, etc.) and ethnic/biographic ancestry of that individual. Thus, the concept of the biological witness has emerged, where the initial determination of the offender’s phenotype may help steer the forensic investigation in the right direction when no case-specific reference samples are available.

Ongoing research is improving the amount and accuracy of the potential inferences that can be drawn from a given DNA sample. For example, the need to have reference databases of normal/control individuals has led to an increase in the amount of genetic data available on many dozens of populations from around the globe, and this wealth of data also had a positive impact on molecular anthropology. The growing number of allele frequency data for diverse reference populations has, in turn, facilitated better estimates of biogeographic ancestry of individuals. The denser global coverage of haplotypes has also led to a better understanding of human population genetics.

Many facets of human identification in a forensic context overlap with aspects of human population genetics and molecular anthropology. This overlap is an active research area and this Research Topic to bring together manuscripts on many current and emerging trends.


Keywords: Ancestry-Informative Markers, Phenotyping, Forensics, Haplogroups, Genotyping


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