phac-nml / gnali Goto Github PK
View Code? Open in Web Editor NEWgene Nonessentiality And Loss-of-function Identifier
Home Page: https://phac-nml.github.io/gnali/
License: Apache License 2.0
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gnali's Issues
Multiple transcripts causes incorrect results
To reproduce:
- Run gNALI with gnomADv3 and input PSMD1
HTR2B appears in output despite not being in input. Caused by having multiple VEP consequence annotations for a VCF record
Issue When Query gnomADv3.1.1 Database
There is apparently an issue when querying the gnomADv3.1.1 database (-d gnomADv3.1.1).
The "-P homozygous-controls" flag apparently isn't querying the controls and biobank samples. The same problem might exist in the gnomADv2.1.1 dataset as well.
Possible solution might be upgrading to use the gnomADv3.1.2 database.
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