Literature DB >> 26315902

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

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.
AVAILABILITY AND IMPLEMENTATION: Freely available at https://database.bio.
© The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

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Year:  2015        PMID: 26315902     DOI: 10.1093/bioinformatics/btv500

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  4 in total

1.  PhenGenVar: A User-Friendly Genetic Variant Detection and Visualization Tool for Precision Medicine.

Authors:  JaeMoon Shin; Junbeom Jeon; Dawoon Jung; Kiyong Kim; Yun Joong Kim; Dong-Hoon Jeong; JeeHee Yoon
Journal:  J Pers Med       Date:  2022-06-12

2.  CVE: an R package for interactive variant prioritisation in precision oncology.

Authors:  Andreas Mock; Suzanne Murphy; James Morris; Francesco Marass; Nitzan Rosenfeld; Charlie Massie
Journal:  BMC Med Genomics       Date:  2017-05-25       Impact factor: 3.063

3.  VCF-Server: A web-based visualization tool for high-throughput variant data mining and management.

Authors:  Jianping Jiang; Jianlei Gu; Tingting Zhao; Hui Lu
Journal:  Mol Genet Genomic Med       Date:  2019-05-24       Impact factor: 2.183

4.  BrowseVCF: a web-based application and workflow to quickly prioritize disease-causative variants in VCF files.

Authors:  Silvia Salatino; Varun Ramraj
Journal:  Brief Bioinform       Date:  2017-09-01       Impact factor: 11.622

  4 in total

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