Building an interactive app that validates genomic variant descriptions in the HGVS format and adds them to a database in a suitable format for publication. The process of generating c. and p. descriptions is automated. Note: This app should only be used for variants identified by DNA sequencing techniques
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Building an interactive app that validates a variant description in the HGVS format and adds relevant annotations from different resources based on user requests
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openvar/variantAnnotator
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Building an interactive app that validates a variant description in the HGVS format and adds relevant annotations from different resources based on user requests
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