About this Research Topic
Volume I
Anatomically modern humans originated in Africa hundreds of thousands of years ago and migrated out of the continent approximately 50,000 years ago. This migration initiated complex evolutionary events during the peopling of Eurasia, Oceania, and America, including population bottlenecks, mutations, initial genetic isolation, subsequent admixture with incoming populations, adaptation to extreme environments, and interbreeding with archaic hominins. These intricate migration and admixture processes have shaped the complex genetic structure of ethnolinguistically diverse populations. A comprehensive understanding of this fine-scale population structure and its impact on human health and disease is crucial in the era of precision medicine. Therefore, extensive population genetic studies employing multiple genome-wide genetic markers—such as Short Tandem Repeats (STRs), Single Nucleotide Polymorphisms (SNPs), Insertions/Deletions (InDels), and Copy Number Variations (CNVs)—are imperative. These studies aim to provide new insights into the intricate processes of population admixture and the evolutionary history of ethnolinguistically and geographically distinct populations.
Populations across each continent have exhibited enriched diversity in culture, ethnicity, language, and geography. Over the past three decades, the rapid development of genotyping and sequencing platforms, alongside advanced computational techniques, has laid a foundational framework for understanding the genetic landscape from various perspectives. Genetic studies focusing on the uniparentally inherited Y-chromosome and maternally inherited mitochondrial DNA have elucidated dominant haplogroups and corresponding expansion events in continental populations. Additionally, autosomal data have provided crucial insights into the demographic history and admixture processes of global populations, exemplified by projects such as the Simons Genome Diversity Project. However, more intricate population genetic relationships and structures have been reconstructed using low-density genetic markers. Recent advancements in ancient genome research have also been pivotal, offering insights into the formation of spatiotemporally diverse populations through the admixture of three ancestral groups: farmers, hunter-gatherers, and herders. Despite these advances, there remains a significant need for systematic and scaled studies of ethnolinguistically diverse populations, particularly those previously overlooked in genetic surveys.
Forensic investigative genetic genealogy, a rapidly emerging field since 2018, has garnered significant interest for its application in complex parentage testing. Numerous projects have been undertaken to develop and validate new panels, reconstruct and enhance phylogeny databases, and create new statistical models targeting worldwide populations to advance this technique in forensic practice. Distant relatives can be accurately identified through a combination of well-reconstructed phylogenies and bio-geographical ancestry inference. Furthermore, complex parentage relationships and bio-geographical origins can be precisely reconstructed and localized by analyzing shared alleles (IBS) and haplotypes (IBD). This topic will concentrate on fine-scale genetic reconstruction using high-density genetic markers and a corresponding database of genome-wide variations from ethnolinguistically and geographically diverse representative populations. Such efforts are instrumental in facilitating long-range familial searches and fine-scale genetic localization within East Asian subgroups.
This Research Topic is designed to provide a comprehensive and contemporary overview of the role of "Forensic Investigative Genetic Genealogy and Fine-Scale Structure of Human Populations." It aims to illuminate four critical areas:
• Characterization and detailed depiction of the fine-scale genetic background and genetic foundations across ethnolinguistically diverse and geographically distinct populations.
• Development of population-specific panels tailored to distinct genetic variations to facilitate long-range familial searches.
• Construction of a database specifically geared towards supporting long-range familial searches and the reconstruction of fine-scale genetic structures.
• Development of novel statistical models for long-range familial searches and fine-scale genetic reconstruction, focusing on Identity by State (IBS) and Identity by Descent (IBD) methodologies.
• Population-specific database and forensic haplotype imputation reference panel.
• Ancient DNA techniques and their applications in forensic science.
Keywords: Forensic investigative, genetic genealogy, population background, genomic variations, population admixture, biological adaptation
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