Additional file 1 of Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy

Protocols for screening with STR Panels B and C. Text S3. WGS data generation and analysis pipeline. Table S2.

Genetic features of the HA-like probands excluded after systematic genetic testing due to candidate variants in genes outside the curated scope of HAs. Table S3. Geographic distribution of probands by provincial-level administrative division and recruitment center.

Table S4. Genotype frequency profiles across the HARMONY cohort, the YRD, the non-YRD, and the YRD provinces. Table S5.

Pairwise similarity of genotype frequency profiles among the four YRD provinces. Table S6. Chi-square comparison of the distribution of genetic findings between the two medical centers.

Table S7. Previously unreported genetic findings by our group attributed to conventional and structural variants identified by targeted NGS. Figure S1.

Molecular characterization of the five probands identified with pathogenic CNVs. Table S8. Aligned genotype distribution of autosomal dominant ataxia between Chen et al. and the HARMONY cohort.

Table S9. Aligned genotype distribution of ataxia between Wan et al. and the HARMONY cohort.