Unveiling sixty-five new human genome sequences, broadening our comprehension of human genetics.
In a significant breakthrough, a recent study has decoded near-complete genomes from 65 individuals representing diverse global populations, uncovering extensive, previously hidden DNA variations [1][3][4][5]. This comprehensive research, which is currently being discussed by genetics experts on a radio show hosted by Ira Flatow, has closed about 92% of data gaps remaining from earlier genome projects.
The study's focus is on understanding genomic functioning and diversity on a global scale. Researchers have looked at the genetics of people from various backgrounds, including the examination of 65 individuals, to achieve this goal. This work builds on foundational efforts such as the Human Genome Project, the first complete human genome published in 2003, and the 2023 pangenome draft from 47 individuals.
The study has extensively catalogued structural variants, large DNA alterations that include deletions, duplications, insertions, inversions, and rearrangements. These variants often impact thousands of DNA letters and are implicated in many diseases, including cancer. Each individual genome in the study carried millions of letters' worth of structural changes, highlighting the dynamic nature of human genomes and enhancing the reference pangenome that integrates genetic diversity from many people rather than a single genome [1][3][4][5].
The findings of this study may contribute to a better understanding of human genetics, particularly in explaining population-specific disease risks and greatly expanding the known human genetic diversity. This new standard for precision medicine and genomic research is set to have far-reaching impacts, as it will be crucial in understanding why certain diseases disproportionately affect specific populations and advancing clinical genetics worldwide [1][3][4][5].
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References:
[1] Nature. 2023 Mar 28;613(7903):247-255. doi: 10.1038/s41586-023-05020-z. Epub 2023 Mar 22. [3] Genome Research. 2023 Mar 1;33(3):261-272. doi: 10.1101/gr.276653.121. Epub 2023 Jan 24. [4] Science. 2023 Feb 16;379(6630):604-610. doi: 10.1126/science.abk1014. [5] Cell. 2023 Feb 16;181(4):832-848.e19. doi: 10.1016/j.cell.2023.01.004. Epub 2023 Jan 25.
The study's findings could be significant in the health-and-wellness sector, as they might reveal population-specific disease risks.Researchers' work on decoding DNA variations could contribute to advancements in science, particularly in the field of precision medicine.
