Title
VariantDB : a flexible annotation and filtering portal for next generation sequencing data VariantDB : a flexible annotation and filtering portal for next generation sequencing data
Author
Faculty/Department
Faculty of Sciences. Mathematics and Computer Science
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Subject
Human medicine
Source (journal)
Genome medicine
Volume/pages
6(2014) , 10 p.
ISSN
1756-994X
1756-994X
Article Reference
74
Carrier
E-only publicatie
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Interpretation of the multitude of variants obtained from next generation sequencing (NGS) is labor intensive and complex. Web-based interfaces such as Galaxy streamline the generation of variant lists but lack flexibility in the downstream annotation and filtering that are necessary to identify causative variants in medical genomics. To this end, we built VariantDB, a web-based interactive annotation and filtering platform that automatically annotates variants with allele frequencies, functional impact, pathogenicity predictions and pathway information.
Full text (open access)
https://repository.uantwerpen.be/docman/irua/51eeb1/9270.pdf
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