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

By Velimir Gayevskiy, Tony Roscioli, Marcel E Dinger, Mark J Cowley

Posted 31 Jan 2018
bioRxiv DOI: 10.1101/258061 (published DOI: 10.1093/bioinformatics/bty540)

Capability for genome sequencing and variant calling has increased dramatically, enabling large scale genomic interrogation of human disease. However, discovery is hindered by the current limitations in genomic interpretation, which remains a complicated and disjointed process. We introduce Seave, a web platform that enables variants to be easily filtered and annotated with in silico pathogenicity prediction scores and annotations from popular disease databases. Seave stores genomic variation of all types and sizes, and allows filtering for specific inheritance patterns, quality values, allele frequencies and gene lists. Seave is open source and deployable locally, or on a cloud computing provider, and works readily with gene panel, exome and whole genome data, scaling from single labs to multi-institution scale.

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