The output VCF can contain commas in the ACMG_DISEASE_NAME field of the Exomiser INFO key. Could these be replaced with semi-colons or underscores?
[Exomiser/exomiser-core/src/main/java/org/monarchinitiative/exomiser/core/writers/VcfResultsWriter.java](
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fields.add('"' + assignment.map(acmgAssignment -> acmgAssignment.disease().diseaseName().replace(" ", "_")).orElse("") + '"'); |
This breaks spec compliance which says "commas are permitted only as delimiters for lists of values".
Because the Exomiser INFO field is set as `Number=.' in the VCF, pysam interprets these commas as breaking between multiple instances of the field, which breaks parsing the field into its subfields.
related to #620
The output VCF can contain commas in the
ACMG_DISEASE_NAMEfield of theExomiserINFO key. Could these be replaced with semi-colons or underscores?[Exomiser/exomiser-core/src/main/java/org/monarchinitiative/exomiser/core/writers/VcfResultsWriter.java](
Exomiser/exomiser-core/src/main/java/org/monarchinitiative/exomiser/core/writers/VcfResultsWriter.java
Line 241 in 421c22d
This breaks spec compliance which says "commas are permitted only as delimiters for lists of values".
Because the
ExomiserINFO field is set as `Number=.' in the VCF, pysam interprets these commas as breaking between multiple instances of the field, which breaks parsing the field into its subfields.related to #620