Collates data from multiple sources |
CardioClassifier retrieves data from multiple databases/resources including ExAC, ClinVar, ACGV and dbNSFP as well as internally derived data |
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Takes a standard VCF or variant details as input and annotates with effect on sequence and protein |
The Ensembl Variant Effect Predictor is used to annotate all variants according to protein consequence |
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ACMG/AMP rules parameterised through expert curation according to specific gene and disease |
We have developed expertly-curated gene and disease specific thresholds for 14 computational ACMG/AMP criteria in addition to 3 specifically created ICC specific rules. |
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Computational data used to activate ACMG/AMP rules |
Each variant is automatically assessed against 17 computational criteria |
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Interactive refinement of rules and addition of case-level data |
Users can interactively add or remove evidence pertaining to any of the ACMG/AMP rules |
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Integration of automated annotations and case-level interactive additions to calculate a classification according to the ACMG logic |
The logic from the ACMG/AMP guidelines is used to provide a final classification |
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