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@jamie-m-a jamie-m-a released this 16 May 11:00
release/112.0
31a3581

New in version 112 (May 2024)

Enhanced Structural Variant Support:

  • Added support for CNV:TR
  • Enabled the use of chromosome synonyms in breakends
  • Report consequences for each breakend and enable the input of single breakends

New plugins (supported on CLI, Web and REST):

  • AlphaMissense - annotates missense variants with the pre-computed AlphaMissense pathogenicity scores. AlphaMissense is a deep learning model developed by Google DeepMind that predicts the pathogenicity of single nucleotide missense variants.

New plugins (supported on CLI and Web):

  • RiboseqORFs - uses a standardized catalog of human Ribo-seq ORFs to re-calculate consequences for variants located in these translated regions

New plugins (supported on CLI):

  • Paralogues - fetches variants overlapping the genomic coordinates of amino acids aligned between paralogue proteins
  • AVADA - Automatic VAriant evidence DAtabase is a novel machine learning tool that uses natural language processing to automatically identify pathogenic genetic variant evidence in full-text primary literature about monogenic disease and convert it to genomic coordinates
  • GeneBe - A plugin kindly contributed by the GeneBe team, it retrieves automatic ACMG variant classification data from https://genebe.net/
  • PhenotypeOrthologous - A VEP plugin that retrieves phenotype information associated with orthologous genes from model organisms

Plugin support added to REST and Web for:

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