Fig. 3: Summary of the findings for recessive genes in the HKGP Chinese cohort (n = 18,065).
From: Population-scale genomic medicine with the Hong Kong Genome Project
a, GCF of ACMG pan-ethnic tier 1−3 CS genes in the HKGP Chinese cohort. b,c, Contribution of ACMG tier 1–3 genes to the cGCF in the HKGP Chinese cohort compared to other populations from gnomAD 4.0. HBA1/HBA2 and GJB2, major contributors to the cGCFs in tier 1 and tier 2, respectively, in Chinese and East Asian populations, are highlighted. The line styles in c distinguish the cGCF profiles of different populations. d, Comparison of GCF for ACMG and non-ACMG CS genes between HKGP Chinese and non-Finnish Europeans from gnomAD 4.0. e, Comparison of cGCF and panel size between ACMG pan-ethnic tiers and Chinese-specific tiers for HKGP Chinese and East Asian populations. f, Framework for re-tiering ACMG CS genes for the Chinese population. AFR, African; CHI, Chinese; EAS, East Asian; EUR, non-Finnish European; fACMG tier, gnomAD 2.0 GCF adopted by the ACMG; fHKGP, GCF in the HKGP.
