Article

MACE2K: A Text-Mining Tool to Extract Literature-based Evidence for Variant Interpretation using Machine Learning

2020-12-04

Abstract excerpt

Interpretation of a given variant’s pathogenicity is one of the most profound challenges to realizing the promise of genomic medicine. A large amount of information about associations between variants and diseases used by curators and researchers for interpreting variant pathogenicity is buried in biomedical literature. The development of text-mining tools that can extract relevant information from the literature...

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Literature Corpus work: c85f951c-a1a0-54d7-a717-f4f7236c9157
DOI: 10.1101/2020.12.03.409094

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