|国家预印本平台
首页|Bibliome Variant Database: Automated Identification and Annotation of Genetic Variants in Primary Literature

Bibliome Variant Database: Automated Identification and Annotation of Genetic Variants in Primary Literature

Bibliome Variant Database: Automated Identification and Annotation of Genetic Variants in Primary Literature

来源:bioRxiv_logobioRxiv
英文摘要

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

Baker Samuel W.、Ganguly Arupa

10.1101/2020.07.16.207688

生物科学研究方法、生物科学研究技术遗传学基础医学

Baker Samuel W.,Ganguly Arupa.Bibliome Variant Database: Automated Identification and Annotation of Genetic Variants in Primary Literature[EB/OL].(2025-03-28)[2025-06-17].https://www.biorxiv.org/content/10.1101/2020.07.16.207688.点此复制

评论