New plugin (supported on CLI, REST, and web):
- EVE - annotates human variants using EVA classification method based solely on evolutionary sequences (GRCh38 only)
- Plugins now available in REST and web (already available in CLI):
- GO - retrieves Gene Ontology terms associated with transcripts/translations
- IntAct - annotates human variants which fall in interaction sites, as described in the IntAct database
Plugins now available in web (already available in CLI):
- NMD - predicts if a stop_gained variant allows transcript to escape nonsense-mediated mRNA decay based on certain rules
Other changes:
- Readthrough transcripts are now removed from cache
- Transcripts of biotype ‘artifact’ which are artifactual duplication are now removed from cache and not accessible using database
- gnomaAD allele frequencies are now available for exomes and genomes separately through —af_gnomade and —af_gnomadg options respectively. The —af_gnomad option have same function as --af_gnomade.