monarch-initiative / gpsea

A Python library for discovery of genotype-phenotype associations
https://monarch-initiative.github.io/gpsea/stable
MIT License
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Patient_5 has an error with variant SO:1000029_HGNC:12799_WWOX. #345

Open pnrobinson opened 1 week ago

pnrobinson commented 1 week ago

I am getting an error loading this patient

 ·Individual PMID_25411445_Patient_5 has an error with variant SO:1000029_HGNC:12799_WWOX. 
Try again or remove variant from testing... Could not parse CDS start and end from given coordinates

However, this is a structural variant and GPSEA should not be looking for coordinates. @ielis thoughts about what might be going on?

 {
            "subjectOrBiosampleId": "Patient 5",
            "interpretationStatus": "CAUSATIVE",
            "variantInterpretation": {
              "variationDescriptor": {
                "id": "var_LRQRAQWuBINJvuRxWMFQfagpS",
                "label": "DEL:c.-366-? *871+?del",
                "geneContext": {
                  "valueId": "HGNC:12799",
                  "symbol": "WWOX"
                },
                "moleculeContext": "genomic",
                "structuralType": {
                  "id": "SO:1000029",
                  "label": "chromosomal_deletion"
                },
                "allelicState": {
                  "id": "GENO:0000135",
                  "label": "heterozygous"
                }
              }
            }
          }
        ]
      }
pnrobinson commented 6 days ago

I have extended the curation of this gene to avoid this error, but still, I do not think this should be leading to an error, the original phenopackets causing this are in version 0.21 of PS

ielis commented 6 days ago

I'll have a look.