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

Chih-Hsuan Wei | Zendy; Lon Phan | Zendy; Juliana Feltz | Zendy; Rama Maiti | Zendy; Tim Hefferon | Zendy; Zhiyong Lu | Zendy

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

Author(s) -

Chih-Hsuan Wei,

Lon Phan,

Juliana Feltz,

Rama Maiti,

Tim Hefferon,

Zhiyong Lu

Publication year - 2017

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btx541

Subject(s) - dbsnp , genomic medicine , precision medicine , computer science , computational biology , genetics , biology , single nucleotide polymorphism , gene , genotype

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 their mutation extraction results are not standardized or integrated with curated data.

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