The figure below shows how variant matching via Cat-VRS effectuates knowledge integration. On the left is an assayed variant from a patient, and two knowledgebase entries, each with associated genomic knowledge, which are siloed. However, by representing them with Cat-VRS, each are converted into categorical variant representations under a single common representation specification. As a result, the Cat-VRS representations become easily comparable with each other, and both assayed-to-categorical and categorical-to-categorical variant matching becomes possible under a common framework. By extension, the knowledge of each respective knowledgebase entry can be integrated as part of knowledgebase curation, or applied to the assayed variant of interest in clinical pipelines.
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