Genomic datasets have been criticized for lack of diversity due to an overabundance of European samples compared to non-European samples. The GenomeAsia 100K project was established to help expand current knowledge of genetic diversity, especially as it pertains to Asian populations. The pilot project aims to produce and analyze a dataset of whole genome sequences for 1,739 individuals across 64 different countries. Sampled individuals came from countries such as India, South Korea, Pakistan, Malaysia, and the Philippines, with particular emphasis on populations that have been relatively underrepresented in other projects.
Population genetics studies using this dataset have determined subpopulation split times as well as analyzed differing degrees of Denisovan admixture within south and southeast Asian populations. In the medical field, research suggests that the dataset has promising potential for expanding current knowledge of variants causing genetic-related diseases. For example, 2 unique variants were identified in PMS2--a gene coding for a protein involved in DNA repair--that may link to a higher predisposition for developing cancer. Continued contributions from the GenomeAsia 100K project will hopefully improve our efforts to understand more about human genetic diversity and ability of genomics to inform social, historical, and medical questions.
Audrey Tjahjadi
Link to the original article: https://www.nature.com/articles/s41586-019-1793-z.pdf
Link to the project website: https://genomeasia100k.org/
No comments:
Post a Comment