-
Notifications
You must be signed in to change notification settings - Fork 311
New issue
Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.
By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.
Already on GitHub? Sign in to your account
Add variant effect ontology #261
Comments
My further suggestion would be to only accept SO term names in ADAM and not worry about mapping between non-SO terms as described on that GEMINI documentation page, i.e. only those values from the column Sequence Ontology terms (column: impact_so) in this table Although on review that column has some errors in it, e.g. feature elongation should be feature_elongation (SO:0001907), non_coding_exon_variant should be non_coding_transcript_exon_variant (SO:0001792), nc_transcript_variant isn't a valid term, etc. |
I have been able to fix some of those documentation errors, not sure yet if the GEMINI code also needs to be fixed. In any case, the SO itself should be the source of record for these terms. |
See new VCF annotation standard 'ANN' field specification, from authors of SnpEff and Ensembl VEP. |
See new schema in bigdatagenomics/bdg-formats#67. |
Closing as dupe of #1044. |
Suggested by @heuermh, see here for examples. This should be added to the VariantAnnotations and variant annotation parser.
The text was updated successfully, but these errors were encountered: