Title
database.bio: a web application for interpreting human variations
Abstract
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.
Year
DOI
Venue
2015
10.1093/bioinformatics/btv500
BIOINFORMATICS
Field
DocType
Volume
Data science,Data mining,Computer science,Web application,The Internet,Annotation,Supercomputer,Visualization,SAFER,Preprocessor,Bioinformatics,Molecular Sequence Annotation,Database
Journal
31
Issue
ISSN
Citations 
24
1367-4803
1
PageRank 
References 
Authors
0.40
2
11
Name
Order
Citations
PageRank
Min Ou110.74
Ricky Ma210.40
Jeanno Cheung310.74
Katie Lo410.40
Patrick Yee510.40
Tewei Luo610.40
T. L. Chan710.40
Chun Hang Au810.40
Ava Kwong910.74
Ruibang Luo101139.92
Tak Wah Lam11393.76