Extended Data Fig. 2. Experiment validation of variants with uncertain significance in seven genes.
Variants with uncertain significance (VUS) identified in BLM, HFM1, MCM8, MCM9, MSH4, and RECQL4 were verified through homologous recombination (HR) reporter system. Variants identified in NR5A1 were verified through luciferase assay. The relative HR repair efficiency or transcriptional activity of wild-type (WT, blue column) and mutant (light blue column) proteins were compared with the mock group (cells transfected with pcDNA3.1 or pENTER vector, dark blue column) using two-sided Student’s t-test. Three independent experiments were conducted. Error bars indicate s.e.m. The numbers indicate P values. *P-value < 0.05. **P-value<0.01. ***P-value<0.001.n.s, not statistically significant.