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oai:figshare.com:article/34020824 2026-09-29T03:47:32Z category_7 category_13 category_15 category_19 category_21 category_272 category_734 category_64 category_135 portal_81 item_type_6 month_year_09_2026

Additional file 1 of Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy Jin-Yang Yu (25134530) Yi-Min Sun (2416321) Yi Dong (440404) Jian-Jun Wu (2884814) Chen-Hao Zhu (6717470) Yi-Chu Du (7819409) Yi-Xin Zhang (3824881) Yue Zhang (30585) Sheng-Mei Zou (25075728) Yin Ma (7819406) Hai-Lin Dong (6878402) Zhi-Ying Wu (16075816) Medicine Genetics Neuroscience Pharmacology Biotechnology Environmental Sciences not elsewhere classified Biological Sciences not elsewhere classified Cancer Computational Biology Hereditary ataxias Genetic landscape Molecular diagnosis Chinese population Additional file 1. Text S1. Routine clinical workup for excluding acquired ataxias. Table S1. Complete list of hereditary ataxia genes applied in this study. Text S2. 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. 2026-09-29T05:00:00Z Text Journal contribution 10.6084/m9.figshare.34020824.v1 https://figshare.com/articles/journal_contribution/Additional_file_1_of_Large-scale_genetic_profiling_of_hereditary_ataxias_in_China_implications_for_a_stepwise_molecular_diagnostic_strategy/34020824 CC BY + CC0