database.bio: a web application for interpreting human variations | Zendy

Min Ou | Zendy; Ricky Ma | Zendy; Jeanno Cheung | Zendy; K. K. Lo | Zendy; Patrick Yee | Zendy; Tewei Luo | Zendy; Tzu-Liang Chan | Zendy; Chun Hang Au | Zendy; Ava Kwong | Zendy; Ruibang Luo | Zendy; TakWah Lam | Zendy

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database.bio: a web application for interpreting human variations

Author(s) -

Min Ou,

Ricky Ma,

Jeanno Cheung,

K. K. Lo,

Patrick Yee,

Tewei Luo,

Tzu-Liang Chan,

Chun Hang Au,

Ava Kwong,

Ruibang Luo,

TakWah Lam

Publication year - 2015

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/btv500

Subject(s) - computer science , annotation , preprocessor , visualization , task (project management) , database , safer , data integration , data mining , information retrieval , data science , artificial intelligence , computer security , management , economics

Rapid advances of next-generation sequencing technology have led to the integration of genetic information with clinical care. Genetic basis of diseases and response to drugs provide new ways of disease diagnosis and safer drug usage. This integration reveals the urgent need for effective and accurate tools to analyze genetic variants. Due to the number and diversity of sources for annotation, automating variant analysis is a challenging task. Here, we present database.bio, a web application that combines variant annotation, prioritization and visualization so as to support insight into the individual genetic characteristics. It enhances annotation speed by preprocessing data on a supercomputer, and reduces database space via a unified database representation with compressed fields.

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