| Literature DB >> 26315902 |
Min Ou1, Ricky Ma2, Jeanno Cheung2, Katie Lo2, Patrick Yee2, Tewei Luo1, T L Chan3, Chun Hang Au3, Ava Kwong4, Ruibang Luo5, Tak-Wah Lam6.
Abstract
UNLABELLED: 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.Entities:
Mesh:
Year: 2015 PMID: 26315902 DOI: 10.1093/bioinformatics/btv500
Source DB: PubMed Journal: Bioinformatics ISSN: 1367-4803 Impact factor: 6.937