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Additional file 1 of Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease

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https://figshare.com/articles/dataset/Additional_file_1_of_Driving_mosaicism_somatic_variants_in_reference_population_databases_and_effect_on_variant_interpretation_in_rare_genetic_disease/17204907
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Additional file 1. Supplementary tables S1–S7. Table S1. Summary of the 1388 genes with the associated autosomal dominant conditions. Table S2. Summary of AD genes and the associated conditions with their corresponding ClinVar likely pathogenic and pathogenic SNVs in the ExAC catalog. Table S3. Summary of AD genes and the associated early onset, severe conditions with their corresponding ClinVar likely pathogenic and pathogenic SNVs in the ExAC catalog. Table S4. gnomAD variant assessment for the genes that show evidence of mosaicism in ExAC. Table 5. Mosaicim in hematopoietic genes in ExAC. Table S6. Column names and corresponding descriptions for the tables S1-S5. Table S7. Phenotype assessment criteria.
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2021-12-14
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