Article
Seave: a comprehensive web platform for storing and interrogating human genomic variation
2018-01-31
Abstract excerpt
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 scor...
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Identifiers and source
- Literature Corpus work
- ff232712-959f-5e58-ad55-a9b27a7c9ad2
- DOI
- 10.1101/258061