Daniel Danis
Daniel Danis
The [table with definition](https://phenopacket-schema.readthedocs.io/en/latest/therapeutic-regimen.html#id2) of the `TherapeuticRegimen` contains `status` in the last row. However, according to the corresponding `proto` file, this should have been `regimen_status`.
Dear Phenopacket team, I'd like to ask a question regarding `ReferenceRange`. The `ReferenceRange` requires both `low` and `high` to be specified, both fields are mandatory. However, sometimes it may be...
The table `VariantInterpretation` lists a field `variant`. However, the name of the field should be `variation_descriptor` to be in sync with the proto files.
The RTD pages do not mention `consanguinous_parents` flag but the flag is part of the schema.
Dear developers, I am using Toil for running a pipeline in a HPC environment that uses Slurm for job scheduling. Certain jobs of my pipeline are shorter than the others...
The PR improves the code of `phenopackets` - the library for working with phenopackets in Python. ### Current state of things `phenopackets` consists of the Python bindings for Phenopacket Schema...
@julesjacobsen The PR fixes several small inaccuracies in the documentation, mostly deviations from the protobuf schema. Fixes #316, #339, #344, #350, #351
Let's support both _Gencode_ and _RefSeq_ transcripts, and allow to limit the analysis to high-confidence _RefSeq _ transcripts only.
Implement a function for calculating probability: ```java public interface HpoDiseaseAnnotation { double observationProbability(TemporalInterval interval) { // TODO - implement return 0; } } ```