Why the study?
The study was conducted to assess the genetic architecture of hypertrophic cardiomyopathy in patients of predominantly Chinese ancestry.
Population
224 Singaporean HCM patients, 3634 Singaporean controls, and 6179 White HCM cohorts
Comparison
Singaporean HCM patients vs Singaporean controls, additional populations, and White HCM cohorts
Design
Genetic sequencing and case-control comparative study with in vitro functional studies
Authors
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May warrant ancestry-aware variant interpretation in Asian HCM; leaves open need for diverse reference databases.
Chinese HCM patients have fewer clinically actionable variants and more variants of uncertain significance compared to White patients, highlighting the need for diverse genetic studies.
Pua et al. (2020) studied this question.
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