Identification of clinically actionable secondary genetic variants from whole‐genome sequencing in a large‐scale Chinese population.

The genetic variants from genes proposed by American College of Medical Genetics and Genomics (ACMG) should be reported to clinician as secondary findings if the annotation suggested pathogenic or likely pathogenic.1 With the increasing application of DNA sequencing in the clinic, the ACMG updated the SF v3.0 list to 73 genes in 2021.2 Ethnic disparities exist in allele frequency of pathogenic variants. In conclusion, we found that approximately 17.37% (778/4480) of Chinese individuals carried at least one reported P/LP variant in the 73 genes recommended by ACMG, and 295 P/LP genetic variants were detected in our WBBC pilot cohort. Following the variant classification standard (Figure 1 and Supporting Information), we identified 295 P/LP variants (99 pathogenic and 196 likely pathogenic variants, Table S2), accounting for 3.15% of the variants. [Extracted from the article]