Implement copy number variation normalization

clingen-data-model / genegraph

Presents an RDF triplestore of gene information using GraphQL APIs

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Closed theferrit32 closed 1 year ago

theferrit32 commented 1 year ago

There are a two types of variation records for this:

[ ] dup/del variations labeled as copy number in clinvar
[ ] dup/del variations labeled as 'Duplication' and 'Deletion', that have start/end/length defined and span more than 50 base pairs

theferrit32 commented 1 year ago

Leaving in review until full run is sanity checked