Graph Embedding Method Based Genetical Trajectory Reveals Migration History Among East Asians

Zhuang Wei, Ching-Wen Chang, Van Luo, Beilei Bian, Xuewei Ding

Research output: Contribution to journalArticlepeer-review


An important issue in human population genetics is the ancestry. By extracting the ancestral information retained in the single nucleotide polymorphism (SNP) of genomic DNA, the history of migration and reproduction of the population can be reconstructed. Since the SNP data of population are multidimensional, their dimensionality reduction can demonstrate their potential internal connections. In this study, the graph and structure learning based Graph Embedding method commonly used in single cell mRNA sequencing was applied to human population genetics research to decrease the data dimension. As a result, the human population trajectory of East Asia based on 1000 Genomes Project was reconstructed to discover the inseparable relationship between the Chinese population and other East Asian populations. These results are visualized from various ancestry calculators such as E11 and K12B. Finally, the unique SNPs along the psudotime of trajectory were found by differential analysis. Bioprocess enrichment analysis was also used to reveal that the genes of these SNPs may be related to neurological diseases. These results will lay the data foundation for precision medicine.Competing Interest StatementThe authors have declared no competing interest.
Original languageEnglish
Publication statusPublished - Oct 2020
Externally publishedYes


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