monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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QC for variants is falsely finding errors #153

Closed pnrobinson closed 1 month ago

pnrobinson commented 1 month ago

For instance,

  patient #320
    variants
     warnings:
     ·Expected a VCF record, a VRS CNV, or an expression with `hgvs.c` 
but had an error retrieving any from patient 
KBG39[PMID_36446582_KBG39]. 
Remove variant from testing
     ·Patient PMID_36446582_KBG39 has no variants to work with

but this phenopacket has

  "expressions": [
                  {
                    "syntax": "hgvs.c",
                    "value": "NM_013275.6:c.1893dup"
                  },
                  {
                    "syntax": "hgvs.g",
                    "value": "NC_000016.10:g.89284654dup"
                  }
                ],
                "vcfRecord": {
                  "genomeAssembly": "hg38",
                  "chrom": "chr16",
                  "pos": "89284648",
                  "ref": "G",
                  "alt": "GT"
                },
ielis commented 1 month ago

Is it the phenopacket in question located here?

https://github.com/monarch-initiative/genophenocorr/blob/KBG/notebooks/ANKRD11/phenopackets/PMID_36446582_KBG39.json

If so, then the warning is a true positive - there is indeed no variant to work with there.