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Seave: a comprehensive web platform for storing and interrogating human genomic variation

Abstract

Motivation: Genome sequencing has had a remarkable impact on our ability to study the effects of human genetic variation, however, variant interpretation remains the major bottleneck. Understanding the potential impact of variants, including structural variants, requires extensive annotation from disparate sources of knowledge, and in silico prediction algorithms. Results: We introduce Seave, an intuitive web platform that enables all types of variants to be securely stored, annotated and filtered. Variants are annotated with allele frequencies and pathogenicity assessments from many popular databases and in silico pathogenicity prediction scores. Seave enables filtering of variants with specific inheritance patterns, including somatic variants, by quality, allele frequencies and gene lists which can be curated and saved. Seave was made for whole genome data and is capable of storing and querying copy number and structural variants. Availability and implementation: To demo Seave with public data, see https://www.seave.bio. Source code is available at http://code.seave.bio and extensive documentation is available at http://documentation.seave.bio. Seave can be locally installed on an Apache server with PHP and MySQL, or we provide an Amazon Machine Image for quick deployment. For commercial and clinical diagnostic licensing, contact the corresponding author. Supplementary information: Supplementary data are available at Bioinformatics online.

Type Journal
ISBN 1367-4811 (Electronic) 1367-4803 (Linking)
Authors Gayevskiy, V.; Roscioli, T.; Dinger, M. E.; Cowley, M. J.
Responsible Garvan Author Dr Mark Cowley
Publisher Name Bioinformatics
Published Date 2019-01-01
Published Volume 35
Published Issue 1
Published Pages 122-125
Status Published in-print
DOI 10.1093/bioinformatics/bty540
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/30561546