Extended Data Fig. 1: Breakdown of the reporting status of the P/LP variants for 53 of 73 dominant disorder-related genes by related phenotypes.
From: Population-scale genomic medicine with the Hong Kong Genome Project
All pathogenic or likely pathogenic (P/LP) variants, classified using the method described in this study, in dominant disorder-associated genes from the HKGP Chinese cohort were cross-referenced with the ClinVar database. Variants not reported in ClinVar were classified as novel. Variants reported in ClinVar and classified as pathogenic or likely pathogenic were labeled as ClinVar P/LP, while all others were labeled as ClinVar non-P/LP. P/LP, pathogenic or likely pathogenic.
