Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Together, the study provides compelling evidence linking ciliary gene variants to a heightened risk of TOF in Han Chinese, offering valuable genetic insights into the etiology and pathogenesis of nonsyndromic TOF and supporting a multigenic inheritance model for the disease.

Researchers relied on Countstar Rigel S2 for cell-concentration and viability measurements in the study's cell samples before single-cell analysis in the 2025 Science advances study.