Full Landscape of Human Genomic Diversity and Its Impact on Precision Medicine

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About this Research Topic

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Background

The genetic analysis focused on ethnolinguistically diverse populations could provide a new opportunity to explore the whole landscape of genetic diversity of human people, dissect the detailed evolutionary tracts of every population, and understand the influence of their specific genetic backgrounds on susceptibility to disease and complex traits. The recent large-scale genetic research mainly focuses on Europeans, and limited population genetic data from African, East Asian, Oceanian, and Native American populations are publicly available. The lack of genetic data from non-European people in human genetic research has hindered the transferability of the reconstructed predicted models for disease risk and obtained the whole landscape of human genetic diversity because of the differences in the demographic history, linkage disequilibrium, and adaptive evolutionary history of other continental populations.

Although the first human genome was sequenced twenty years ago, the reference coordinates were also publicly available. The genetic diversity inferred from the human genetic diversity project (HGDP), and the one thousand genomes project (1KGP) have provided limited windows for understanding other underrepresented populations' origin, migration, and evolutionary history. Recent genomic projects, including UK-biobank 100K, TopMed, and others, have provided a better understanding of the genetic basis of human diseases and complex traits. Still, projects focused on other continental populations, such as the 1000 Chinese People Genetic Diversity Project (10K_CPGDP), are needed to explore the genetic similarities and differences from the evolutionary and medical perspectives.

The fine-scale reconstruction of the evolutionary history and adaptive processes can help us better understand who we are and how we get here. It can also help us better illuminate the mechanisms of human diseases and complex phenotypes. We also noted that human reference bias could cause missing diversity and heritability in human disease research. Human Pangenome Reference Consortium (HPRC) and Chinse Pangenome Consortium (CPC) recently released the new gapless reference sequence. Thus, we can explore the whole landscape of genetic diversity and the genetic basis of ethnolinguistically diverse human populations.

This Research Topic will focus on the population's evolutionary and adaptive history based on the genetic diversity of different genetic markers (Single Nucleotide Polymorphisms, SNPs; Insertion/Deletion, Indels; Short tandem repeats, STRs, and others) from autosomal, Y-chromosomal, and mitochondrial DNA. Besides, we also focus on the evolution of new genes and their influence on human disease and complex traits. All of these researches will shed light on a deeper understanding of the entire landscape of genetic diversity and the genetic basis of human disease and other phenotypes.

We welcome the submissions of Reviews, Original Research, Brief Research Reports, and Opinion Articles that are related to this specific topic but are not limited to:

• Missing diversity of ethnolinguistically diverse human populations
• Missing heritability of complex disease and human traits
• Fine-scale genetic evolutionary history and adaptive features of human people.
• Genetic variation spectrum of different genetic markers based on the second and third-generation sequence
• New gene discovery and population genetic data based on the human pangenome

Research Topic Research topic image

Keywords: Evolutionary history, fine-scale genetic structure, missing diversity, human pangenome, biological adaptation, missing heritability

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