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Additional file 1 of Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery

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Figshare2024-10-29 更新2026-04-28 收录
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https://figshare.com/articles/dataset/Additional_file_1_of_Cardiomyopathies_in_100_000_genomes_project_interval_evaluation_improves_diagnostic_yield_and_informs_strategies_for_ongoing_gene_discovery/27329620
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Additional file 1: All supplementary tables. Table S1 Candidate gene list used as part of the re-analysis of paediatric cardiomyopathy probands. Table S2 List of genes included in different paediatric or syndromic cardiomyopathy panels. Table S3 List of genes associated with cardiomyopathy identified from literature. Table S4 List of genes in version 1 of the UK PanelApp cardiomyopathy panels. Table S5 Filters used for de novo variant annotations in 100,000 Genomes Project taken from Genomics England Research Documentation, https://re-docs.genomicsengland.co.uk/de_novo_data/. Table S6 Demographic and clinical details of the paediatric and adult cardiomyopathy cohorts when stringent criteria are used to define children (age at consent ≤ 16 years). Table S7 Family structures at enrolment for the paediatric and adult cardiomyopathy cohorts when stringent criteria are used to define children (age at consent ≤ 16 years). Table S8 Number of paediatric and adult cardiomyopathy probands by disease recruitment category in the 100,000 Genome Project and the number and percentage of solved probands, using stringent criteria to define children. Table S9 Recruitment categories used for those paediatric and adult probands (Complex CM probands) not recruited under a cardiomyopathy specific category. Table S10 Variant details for genetically‘solved’ paediatric cardiomyopathy probands following GEL’s initial analysis. Table S11 Variant details for genetically ‘solved’ adult cardiomyopathy probands following GEL’s initial analysis. Table S12 Variant details for paediatric cardiomyopathy probands following a re-analysis.
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2024-10-29
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