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@dglemos dglemos released this 09 Dec 18:09
release/105.0
5aa4f5c

New

  • 3 new Sequence Ontology terms are reported for more detailed splice consequence annotation:
    - splice_donor_5th_base_variant (SO:0001787)
    - splice_donor_region_variant (SO:0002170)
    - splice_polypyrimidine_tract_variant (SO:0002169)

New plugins

  • ClinPred: adds pre-calculated scores from ClinPred which helps identify disease-relevant missense variants
  • NMD: predicts whether a stop-gained variant will allow a transcript to escape nonsense-mediated decay
  • PrimateAI: adds pre-calculated clinical impact scores of variants

Web VEP options

  • Condel scores are no longer available via the VEP web interface as they have not been updated since 2014 and newer scores like CADD and REVEL are available
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