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@nuno-agostinho nuno-agostinho released this 18 Jul 08:20
· 9 commits to release/110 since this release

New plugins (supported on CLI):

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

  • Geno2MP - adds information from Geno2MP, a web-accessible database of rare variant genotypes linked to phenotypic information
  • MaveDB - adds information from MaveDB, a database that holds experimentally determined measures of variant effect

Structural variant (SV) annotation updates

  • More detailed molecular consequence predictions
  • More efficient integration of information from reference SV sets
  • Support for breakend variant annotation
  • Integration of CADD-SV scores