Forensic Investigative Genetic Genealogy and Fine-Scale Structure of Human Populations

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Background

Anatomically modern humans originated from Africa hundreds and thousands of years ago and migrated out of Africa around 50 thousand years ago, which underwent complex population evolutionary events in the peopling processes to Eurasia, Oceania and America, mainly including population bottleneck, mutation, initial genetic isolation and the following admixture with incoming populations, the adaptation of extreme environment and introgressed with archaic hominins. These complex population migration and admixture history contributed to the complex population genetic structure of ethnolinguistically diverse populations. As we all know that the comprehensive understanding of fine-scale population structure and its influence on human disease and health is fundamental in the eras of precision medicine. Thus, comprehensive population genetic studies based on the multiple genome-wide genetic markers (Short Tandem Repeat, STR; Singel Nucleotide Polymorphism, SNP; Insertion/Deletion, InDels; Copy Number Variation, CNV and so on ) should be conducted to provide new insights into the deleted process of the population admixture and evolutionary history of ethnolinguistically and geographically different populations.

Populations in each continent harbored enriched diversity in culture, ethnicity, language and geography. With the rapid development of genotyping and sequencing platforms and population computational techniques, previous genetic studies have provided the basal framework of the genetic landscape from different perspectives in the past three decades. Genetic surveys based on the uniparentally-inherited Y-chromosome and maternally inherited mitochondrial DNA have identified many uniparentally founding lineages (dominant Y/MtDNA dominant haplogroups) in each continental population and their corresponding expansion events. Additionally, autosomal evidence provided important clues into the demographic and admixture historical reconstruction of worldwide populations, such as the Simons Genome Diversity Project. However, more population genetic relationships and structures were reconstructed via low-density genetic markers. Finally, recent ancient genome research provided pivotal insights into the formation of spatiotemporally diverse populations. We can reconstruct the detailed population formation processes of modern Eurasian via the admixture of three ancestral ancestors (Farmers, Hunter-gathers and herders). Although advances in the human genetic structure were wonderful, more and more ethnolinguistically diverse populations were needed to be studied scaled and systematically, especially for regions ignored in the past genetic surveys.

Besides, Forensic investigative genetic genealogy, one new and rapidly growing field of forensic genetic science since 2018, has attracted the attention of all scientists focused on complex parentage testing. Many projects aimed to develop and validate the new panel, reconstruct and complement the phylogeny database and develop the new statistical models focused on worldwide populations to promote the widely-used technique in the forensic practice of investigative genetic genealogy. Distant relatives can be accurately identified via the combination of the well-reconstructed phylogeny and bio-geographical ancestry inference. Complex parentage relationships and bio-geographical origin can be accurately reconstructed and localized via the sharing alleles (IBS) and haplotypes (IBD). Thus, This topic will focus on the fine-scale genetic reconstruction based on the high-density genetic markers and the corresponding database of the genome-wide variations from the ethnolinguistically diverse and geographically different representative populations, which would be helpful in the exploration of the long-range familial searches and fine-scale genetic localization within subgroups in East Asians.

This Research Topic aims to provide a broad and updated overview of the involvement of “Forensic investigative genetic genealogy and fine-scale structure of Human Populations” that might shed new light on the following four major aspects:
1, Characterize and make a full landscape of the fine-scale genetic background and genetic basis of ethnolinguistically diverse and geographically populations.
2, Develop the population-specific panel based on the different genetic variations to achieve the long-range familial searches.
3, Construct a database focused on the long-range familial searches and fine-scale genetic structure reconstruction.
4, Develop new statistical models for long-range familial searches and fine-scale genetic reconstruction based on the IBS and IBD.

Keywords: Forensic investigative, Genetic genealogy, Genome-wide variations (SNPs, STRs, InDels and CNVs), Population admixture and biological adaptation

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