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License: GNU Affero General Public License v3.0
adding v3 ACMG Assignments
License: GNU Affero General Public License v3.0
MVStore Integration:
WITHOUT JANNOVAR
(but could annotate later on after getting from mvStore, only if needed, but bf makes no sense, if we do early computed only one time and correctly and we have the ready to serve map instead manipulating to be ready later on and having only half useful data in store)
WITH JANNOVAR
Molecular Consequence Annotation with Jannovar:
ExtendedAllele Subclass:
MVStore Integration:
Data Association:
Testing and Validation:
idea:
Molecular Consequence Annotation with Jannovar:
Purpose: Allele currently does not hold AlleleID, GeneSymbol and molecular consequence, neither clinSig.
Vcf allows to hold all of this, alleleID. But molecular consequence might be "broken" from ClinVar.
ExtendedAllele Subclass:
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