When regenerating genes.tsv from Exomiser parquet results, HUMAN_PHENO_EVIDENCE is empty for some genes despite a non-zero diseasePhenotypeScore. This occurs because the diseaseMatches field is not populated in the parquet for these genes, even though the corresponding evidence is present in the original Exomiser TSV output.
Expected behaviour
diseaseMatches should be populated wherever the original genes.tsv contains human phenotype evidence.
Actual behaviour
diseaseMatches is empty in the parquet for affected genes, making it impossible to reproduce HUMAN_PHENO_EVIDENCE from the parquet alone.
Example
I have attached the sample used to run with Exomiser v15.0.0, along with the corresponding VCF. I observed this with genes PLG and PAH.
Asgharzade-2018-GIPC3-Ahv-14_23.json
Asgharzade-2018-GIPC3-Ahv-14_23.vcf.gz
When regenerating genes.tsv from Exomiser parquet results,
HUMAN_PHENO_EVIDENCEis empty for some genes despite a non-zero diseasePhenotypeScore. This occurs because thediseaseMatchesfield is not populated in the parquet for these genes, even though the corresponding evidence is present in the original Exomiser TSV output.Expected behaviour
diseaseMatchesshould be populated wherever the original genes.tsv contains human phenotype evidence.Actual behaviour
diseaseMatchesis empty in the parquet for affected genes, making it impossible to reproduceHUMAN_PHENO_EVIDENCEfrom the parquet alone.Example
I have attached the sample used to run with Exomiser v15.0.0, along with the corresponding VCF. I observed this with genes PLG and PAH.
Asgharzade-2018-GIPC3-Ahv-14_23.json
Asgharzade-2018-GIPC3-Ahv-14_23.vcf.gz