Allow querying symbolic ALT alleles (INV, CNV, DUP:TANDEM, DEL:ME, INS:ME)

ga4gh-beacon / beacon-elixir

Elixir Beacon Reference Implementation. Latest release is compliant with v1.1.0 of the specification.

https://beacon-project.io/

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Allow querying symbolic ALT alleles (INV, CNV, DUP:TANDEM, DEL:ME, INS:ME) #12

Closed sdelatorrep closed 5 years ago

sdelatorrep commented 6 years ago

I'm not sure the query is done as in the types already implemented (DUP, DEL, SNP, INDEL, INS). Check it. Also, the parser does not extract this information from the VCF files.

sdelatorrep commented 5 years ago

Done in branch dev_1.0.1