For PanVariants validation, we used a panel of clinical positive samples provided by GeneWell. These samples cover hereditary deafness, G6PD deficiency, cystic fibrosis, and aₜhalassemia, encompassing a broad spectrum of variant types from SNV to SV. Sequencing was performed on the DNBSEQ T7 platform.
易珩(Heng Yi) (Thu,) studied this question.