Orion Buske

Results 16 issues of Orion Buske

The current API has the problem that effects are specified without a corresponding transcript. The same variant may have different effects on different transcripts, and the user/system may want to...

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Here's the current version from FHIR: https://www.hl7.org/fhir/2016Jan/sequence.html#resource

This pull request is not intended to be merged and rather provides a place to discuss a concrete but simple example for the way the next iteration of the API...

Currently, homozygous variants are just listed twice (as two separate genomic features) instead of once with a zygosity of 2.

PR submitted
Testing

As @Relequestual mentioned in #105: > I'm running acorss issues converting some of the hgvs codes to ref and alt alleles. I've ran into one variant specifically which is causing...

PR submitted
Testing