bioRxivBioinformaticsPreprint
Bibliome Variant Database: Automated Identification and Annotation of Genetic Variants in Primary Literature
Abstract
The Bibliome Variant Database (BVdb) is a freely available reference database containing over 1 million human genetic variants mapped to the human genome that have been mined from primary literature. The BVdb is designed to facilitate variant interpretation in clinical and research contexts by reducing or eliminating the time required to search for literature describing a given variant. Users can search the database using gene symbols, HGVS variant nomenclature, genomic positions, or rsIDs. Each variant page lists references in the database that describe the variant, as well as the exact gene symbol and variant text description identified in each reference. AVAILABILITY AND IMPLEMENTATIONThe BVdb is freely available at http://bibliome.ai
- organism: human
- assay: whole-exome sequencing
- research focus: variant calling
- research focus: variant effect prediction
- research focus: database / resource
- approach: experimental assay
- Citations
- 0
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