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Genome Med. 2014 Oct 2;6(10):74. doi: 10.1186/s13073-014-0074-6. eCollection 2014.

VariantDB: a flexible annotation and filtering portal for next generation sequencing data.

Author information

1
Department of Medical Genetics, University of Antwerp, 2650 Edegem, Antwerp Belgium ; Biomedical Informatics Research Center Antwerp, University and University Hospital of Antwerp, 2650 Edegem, Antwerp Belgium.
2
Department of Medical Genetics, University of Antwerp, 2650 Edegem, Antwerp Belgium ; Department of Medical Genetics, University Hospital of Antwerp, 2650 Edegem, Antwerp Belgium.
3
Biomedical Informatics Research Center Antwerp, University and University Hospital of Antwerp, 2650 Edegem, Antwerp Belgium.
4
Department of Medical Genetics, University of Antwerp, 2650 Edegem, Antwerp Belgium.

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. VariantDB allows filtering by all annotations, under dominant, recessive or de novo inheritance models and is freely available at http://www.biomina.be/app/variantdb/.

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