The Chinese Children's Congenital Heart Disease Genome Research Project identifies novel pathogenic genes and elucidates genetic mechanisms
Peer-Reviewed Publication
Updates every hour. Last Updated: 11-Jun-2026 11:15 ET (11-Jun-2026 15:15 GMT/UTC)
The discovery of pathogenic genes based on large CHD cohort forms the foundation for improving early diagnosis, prevention, control, and treatment of CHD. To this end, Academician Lin He launched the Chinese Children's CHD Genome Research Project. The research team conducted whole-genome sequencing on 354 core CHD families from China, integrated single-cell transcriptomic data and phenotypic analysis in model animals, and identified high-confidence CHD risk genes. This study has constructed the largest genetic etiology map of congenital heart disease in Asian populations.
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