tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.

Abstract excerpt

Motivation: Despite significant efforts in expert curation, clinical relevance about most of the 154 million dbSNP reference variants (RS) remains unknown. However, a wealth of knowledge about the variant biological function/disease impact is buried in unstructured literature data. Previous studies have attempted to harvest and unlock such information with text-mining techniques but are of limited use because...

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