"Discovering genetic variants that are involved in health-related traits relies on analysing genetic and health information from large cohorts of people. However, there has long been an imbalance of genetic ancestries represented in this kind of research, which has excluded large groups of humanity from the downstream benefits. Millions of genetic variants differ in frequency around the world owing to complex demographic processes, such as migration, that depend on geographic proximity and shared histories."
"Therefore, variants found to be associated with a trait in one population could be less frequent or completely absent in another. Including under-studied populations in genetic resources enhances scientists' ability to discover and precisely map variants that are potentially responsible for health traits and diseases. Two articles in Nature, demonstrate the power of a new large-scale study of an under-studied population: the Taiwan Precision Medicine Initiative (TPMI), which consists of genetic and electronic medical-record data from about half a million participants across Taiwan."
Large-scale genetic studies require extensive genetic and health data from many people to discover variants linked to health traits. Many cohorts have lacked diverse ancestries, leaving large populations underrepresented. Genetic variant frequencies vary globally because of demographic processes like migration, geographic proximity, and shared histories. Variants associated with traits in one population can be rare or absent in another, limiting transferability of findings. Including under-studied populations enables discovery and precise mapping of variants causal for health traits and diseases. The Taiwan Precision Medicine Initiative (TPMI) provides genetic and electronic medical-record data from about 500,000 participants across Taiwan, expanding genomic diversity available for research.
Read at Nature
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