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The Pathologist / Issues / 2025 / October / Same Disease, Different DNA / Notecards
Genetics and epigenetics Omics Screening and monitoring Molecular Pathology

Same Disease, Different DNA

Study finds Chinese heart disease patients have four times more rare genetic variants than UK counterparts

10/23/2025 News 2 min read
article Full Article Summary Notecard

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  1. Study published in Precision Clinical Medicine on HCM genetics.

  2. 593 Chinese patients and 1,232 UK patients analyzed.

  3. 53 percent of Chinese patients had rare genetic variants.

  4. Ancestry-specific variants can aid diagnostic criteria.

  5. Genetic variant accuracy improved using Genebe platform.

  6. Similar proportion of pathogenic variants in both populations.

  7. Limitations in current reference databases for diverse ancestries.

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