Article

Cancer SIGVAR: A semi-automated interpretation tool for germline variants of hereditary cancer-related genes

2020-04-17

Abstract excerpt

The American College of Medical Genetics and Genomics and the Association for Molecular Pathology published guidelines in 2015 for the clinical interpretation of Mendelian disorder sequence variants based on 28 criteria. ClinGen Sequence Variant Interpretation (SVI) Working Groups have developed many adaptations or refinements of these guidelines to improve the consistency of interpretation. We combined the most r...

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Literature Corpus work: 2486953f-ad49-538a-ae00-107d2250e8c8
DOI: 10.1101/2020.04.15.042283

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