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Summer 2023 release

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@vidboda vidboda released this 07 Jul 08:17
· 179 commits to master since this release
  • MobiDetails proposes from now on a direct link to MIZTLI for missense variants 3D interpretation. Thanks to Dr. Blavier for the amazing work! MIZTLI proposes the interpretation of missense variants based on alphaFold models or from structures coming form the PDB. In the coming weeks the direct access should evolve to simplify the interpretation. You can from now on check the doc to learn how to manipulate MIZTLI!
  • bedgraphs for SpliceAI-visual are now bgzipped and indexed with tabix in order to save some disk space on the server. Thanks to Jim Robinson for the essential igv.js and for solving an issue with the flask framework and the bgzipped files
  • Dataset removed: the gnomAD 211 genome frequencies shown were always empty. The dataset has been removed waiting to find a long-term fix (issue #55)
  • More comprehensible message for variants lying on non-coding transcripts (issue #52)
  • New predictor : Integration of AbSplice scores for substitutions (SNVs)
  • nomenclatures fields can now be copied using a button, see discussion #47
  • In addition, issue #42 has been fixed
  • Development and Staging versions are now visually identified with different colors in the navigation bar
  • added SweetAlert2 explanation and confirmation pop-ups when modifying favourite and clinvar watch lists (authenticated users)
  • Integration of a second internal server for VariantValidator. The policy is:
    CLI calls directed to internal server 1 - if unavailable to internal server 2, if unavailable to the genuine English server
    Web UI calls directed to internal server 2 - if unavailable to internal server 1, if unavailable to the genuine English server
    The goal is to avoid concurrent queries, and limit this issue which currently occurs on a daily basis.
  • The REVEL scores are no longer retrieved from dbNSFP, but directly from the REVEL pre-computed dataset. When the hg38 position is not present in the dataset, MobiDetails checks the hg19 one.
  • Mobidetails now live queries the ClinGen Evidence Repository and displays the corresponding ACMG classification just below the ClinVar results