Skip to content

Release/107.0

Choose a tag to compare

@jamie-m-a jamie-m-a released this 13 Jul 08:01
· 4 commits to release/107 since this release

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.