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MOESM1 of Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

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Figshare2019-12-18 更新2026-04-08 收录
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https://springernature.figshare.com/articles/MOESM1_of_Re-analysis_of_whole-exome_sequencing_data_uncovers_novel_diagnostic_variants_and_improves_molecular_diagnostic_yields_for_sudden_death_and_idiopathic_diseases/11393475/1
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Additional file 1: Table S1. Number of classified variants in the Idiopathic Diseases of Human (IDIOM) study per participant. Table S2. Number of classified variants in the Molecular Autopsy (MA) study per participant. Table S3. A. Summary of the demographic characteristics and findings after re-analysis in the 51 cases of rare diseases from the Idiopathic Diseases of Human (IDIOM) study. Table S3. B. Summary of the demographic characteristics and autopsy findings after re-analysis in the 50 cases of sudden death in the young from the Molecular Autopsy (MA) study. Table S4. A. Annotation and classification of variants after re-analysis in the 51 cases of rare diseases from the Idiopathic Diseases in Human (IDIOM) study. Table S4. B. Annotation and classification of variants after re-analysis in the 50 cases of sudden death in the young from the Molecular Autopsy (MA) study.
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2019-12-18
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