Comments (1)
http://www.sanger.ac.uk/science/tools/exomiser
from exomiser.
Related Issues (20)
- integrate alphamissense HOT 5
- Update Jannovar to 0.41 to fix incorrect MT annotations HOT 1
- Phenotype-only, and VCF without sample analysis
- Fail: Individual cannot have a null or empty identifier
- Investigate DeepLOF scores in comparison with gnomAD LOEUF for PVS1 assignment
- Fully-closed coordinates 1:249064688-249064690 out of contig bounds [1,248956422] HOT 1
- Update allele frequency data to use gnomAD v4.0 HOT 1
- Sample parser is throwing error that does not respect Phenopacket schema
- Log out notification for users running old data versions
- Variants Removed but Not Filtered HOT 9
- how to built personal input files
- how to built personal input files HOT 1
- Variant frequency and/or pathogenicity annotations missing
- Some conflicting ClinVar interpretations could be displayed with better information HOT 2
- No Passed Filter variant HOT 1
- Unable to deserialise data HOT 3
- Data for REMM is not configured HOT 2
- RPPR stats from grainyhead? HOT 1
- Assistance Needed: Exomiser Error - Fully-Closed Coordinates Out of Contig Bounds HOT 1
- Exomiser logs to /tmp/spring.log, causing clashes in shared user environments HOT 4
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