VariED: the first integrated database of gene annotation and expression profiles for variants related to human diseases

• DOI: 10.1093/database/baz075
• Publication Date: 2019-07-18T03:06:09Z
• Authors: Chien-Yueh Lee; Amrita Chattopadhyay; Li-Mei Chiang; Jyh-Ming Jimmy Juang; Liang-Chuan Lai; Mong-Hsun Tsai; Tzu-Pin Lu; Eric Y Chuang
• Keywords: Expression (computer science)

Abstract Integrated analysis of DNA variants and gene expression profiles may facilitate precise identification regulatory networks involved in disease mechanisms. Despite the widespread availability public resources, we lack databases that are capable simultaneously providing profiles, variant annotations, functional prediction scores pathogenic analyses. VariED is first web-based querying system integrates an annotation database for genetic variants. The offers a user-friendly platform locates gene/variant names literature by connecting to established online tools, biological tools records from free-text literature. acts as central hub organized genome information consisting annotation, allele frequency, prediction, clinical interpretation three species: human, mouse zebrafish. also provides novel scoring scheme predict impact variant. With one single entry, all results regarding queried can be downloaded. potentially serve efficient way obtain comprehensive knowledge clinicians scientists around world working on important drug discoveries precision treatments.