Computational biologists have uncovered how RNA splicing -- a crucial process for isoform expression and protein diversity -- is regulated across different cell types in the peripheral blood.
This important discovery helps explain how individuals' genetic differences contribute to their predisposition to complex diseases such as systemic lupus erythematosus and Graves' disease .
Furthermore, Asian populations have been notably underrepresented in large-scale genetic studies. For instance, Asians account for only 1.3 percent of the GTEx dataset, while individuals of European descent make up 84.6 percent. A recent study . Nat Genet.) showed that ancestry could be a main factor that affects the findings of genetic regulation, mostly due to differences in allele frequencies. This highlights an urgent need for genetic studies that better represent diverse ancestries.
Asst Prof Liu said,"Our study established a roadmap for population-scale single-cell splicing regulation analysis and provided insights into the development of splice-modifying therapeutics." This cell-type-specific sQTL map is a milestone in human genetics and drug target discovery for complex diseases related to splicing. Meanwhile, the examples provided in the analysis strongly suggests the importance of ancestral diversity in human genetics research.
This project has been supported by grants from the Chan Zuckerberg Foundation , and the Chan Zuckerberg Initiative DAF, an advised fund of Silicon Valley Community Foundation . This work is supported by the Ministry of Education Singapore, under its Academic Research Fund Tier 1 , Tier 2 , and the Precision Medicine Translational Research Programme Core Funding under NUHSRO/2020/080/MSC/04/PM.
Personalized Medicine Sickle Cell Anemia Diseases And Conditions Lymphoma Immune System Genes Stem Cells
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