Summer 2023 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

Early 2023 version

Some major changes since the last release:

• authenticated users are now able to generate lists of variants accessible form unique and permanent URLs from their favourite list of variants
• API endpoint /api/variant/: displays variants details as HTML pages or json files
• charts and pubmed references included in the pdf report
• SpliceAI-lookup API can be requested within a click, using 500bp of sequence surrounding the variant
• SPiP upgraded to v2
• changed the annotation system. Annotations are no longer forced on the canonical transcript when an alternative isoform is selected. Instead, both the variant is mapped to the alternative isoform and to the canonical if possible
• possibility to use VCF strings to annotate variants (e.g. 1-216422237-G-A), default hg38
• database schema update
• creation of an hg38_secure mode when a variant maps incorrectly on hg19
• implementation of SpliceAI-visual

MobiDetails: Online DNA variant interpretation

v20210127

updated changelog