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.
  
  
  METHODS
  Freely available at https://database.bio.
authors: HKU-BGI Bioinformatics Algorithms Research Laboratory and Department of Computer Science, University of Hong Kong.
authors: Min
authors: M
authors: Ou
authors: L3 Bioinformatics Limited.
authors: Ricky
authors: R
authors: Ma
authors: L3 Bioinformatics Limited.
authors: Jeanno
authors: J
authors: Cheung
authors: L3 Bioinformatics Limited.
authors: Katie
authors: K
authors: Lo
authors: L3 Bioinformatics Limited.
authors: Patrick
authors: P
authors: Yee
authors: HKU-BGI Bioinformatics Algorithms Research Laboratory and Department of Computer Science, University of Hong Kong.
authors: Tewei
authors: T
authors: Luo
authors: Department of Pathology, Hong Kong Sanatorium and Hospital.
authors: T L
authors: TL
authors: Chan
authors: Department of Pathology, Hong Kong Sanatorium and Hospital.
authors: Chun Hang
authors: CH
authors: Au
authors: Department of Surgery, University of Hong Kong and Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong and.
authors: Ava
authors: A
authors: Kwong
authors: HKU-BGI Bioinformatics Algorithms Research Laboratory and Department of Computer Science, University of Hong Kong, L3 Bioinformatics Limited, United Electronics Co., Ltd., Beijing, China.
authors: Ruibang
authors: R
authors: Luo
authors: HKU-BGI Bioinformatics Algorithms Research Laboratory and Department of Computer Science, University of Hong Kong, L3 Bioinformatics Limited.
authors: Tak-Wah
authors: TW
authors: Lam
mesh_terms: D030561:Databases, Nucleic Acid; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020407:Internet; D058977:Molecular Sequence Annotation; D012984:Software