HeartVar: An LLM-Assisted Tool for Clinical Classification of Variants in Cardiovascular Disease Cohorts
Manual clinical DNA variant classification is the bottleneck of every clinical and research rare disease workflow. The process typically requires a curator to assemble evidence from numerous databases, weigh 28 criteria, reconcile competing evidence, and produce a defensible case for the final classification. Additionally, the framework used to assess variants is not static and successive addenda…
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