TmVar 3.0: an improved variant concept recognition and normalization tool.

ABSTRACT:

Motivation

Previous studies have shown that automated text-mining tools are becoming increasingly important for successfully unlocking variant information in scientific literature at large scale. Despite multiple attempts in the past, existing tools are still of limited recognition scope and precision.

Result

We propose tmVar 3.0: an improved variant recognition and normalization system. Compared to its predecessors, tmVar 3.0 recognizes a wider spectrum of variant-related entities (e.g. allele and copy number variants), and groups together different variant mentions belonging to the same genomic sequence position in an article for improved accuracy. Moreover, tmVar 3.0 provides advanced variant normalization options such as allele-specific identifiers from the ClinGen Allel

SUBMITTER: Wei CH 

PROVIDER: S-EPMC9477515 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature