Orion Buske
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...
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.
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...