MoBiDiC_BioInfo
@MoBiDiC_BioInfo
Bioinformatics from Montpellier University Hospital. Author of "MobiDetails: online DNA variants interpretation" in EJHG. Read here: http://rdcu.be/b92MG
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MobiDetails: online DNA variants interpretation in @ejhg_journal just published. Read it at rdcu.be/b92MG and share! #mobidetails
As some of you may have noticed, we migrated the #mobidetails timeline to mastodon, a decentralized open-source social network. News now at mastodon.online/@MoBiDiC_bioin…. mobidetails.iurc.montp.inserm.fr/MD/
yesterday was the day of a new MobiDetails release! Most of work behind the scene, but also a new direct link to MIZTLI, a rich structural analysis tool. The link from MD will evolve in the coming weeks to make your job even easier!
Interested in DNA variant interpretation, HGVS nomenclatures, ACMG classification? Check out @VEPTCOURSE !! Barcelona, 2-4 October. Details at veptc.variome.org. MobiDetails will be present with a 1,5h workshop days 2 and 3!!! #mobidetails #VEPTC2023 mobidetails.iurc.montp.inserm.fr/MD/
New Mobidetails version released yesterday including pre-computed AbSplice predictions from @gagneurlab, some bug fixes and UI experience improvements. More at mobidetails.iurc.montp.inserm.fr/MD/changelog! #mobidetails #bioinformatics #geneticmutations
Retrouvez nous demain à 13h pour une présentation de David Baux qui nous parlera de l’apport du deepLearning en génétique moléculaire à travers 3 outils : AlphaFold, DeepVariant et SpliceAI. #APIhour #DeepLearning Lien Teams : api.bioinfo-diag.fr
Then if you are, please read mobidetails.iurc.montp.inserm.fr/MD/about#clinv…! It's already here! #mobidetails
Need a nice database and visualisation tool for your VCF files? Check out our brand new software, SEAL, which annotates your VCFs using VEP from @ensembl, stores and displays them in a nice web app!! github.com/mobidic/SEAL
Glad to announce the release of the SpliceAI-visual paper: humgenomics.biomedcentral.com/articles/10.11… a collaborative work based on an original idea of @JMdeSteAgathe - don't hesitate to share! Available now in #mobidetails mobidetails.iurc.montp.inserm.fr
Check out the SpliceAI predictions for your favourite gene (MD canonical transcript), using SpliceAI-visual directly in the gene page (embedded in a igv.js browser) #mobidetails mobidetails.iurc.montp.inserm.fr/MD/
New mode called 'hg38 secured' for genes that encounter mapping issues on hg19 - this mode unlocked more than 40 genes and nearly 4,000 transcripts! Nothing to do! Users automatically switch to this mode when required. #mobidetails mobidetails.iurc.montp.inserm.fr/MD/
Some of you may have experienced an error linked to hg19 mapping issues with your variants: currently working on an hg38 only capable version of MD: stay tuned and as a bonus this should unlock some additional transcripts! #mobidetails mobidetails.iurc.montp.inserm.fr/MD/
Trick: click on a gene symbol to display and follow some useful, gene-centered, links. #mobidetails mobidetails.iurc.montp.inserm.fr/MD/
Trick: The MANE isoform provided by default does not suit your needs? Annotate a variant on your favourite isoform by selecting it in this pop-up menu: just click "Choose an isoform"! #mobidetails mobidetails.iurc.montp.inserm.fr/MD/
Here it is!! SpliceAi-visual is now available in MD for many transcripts! Analyse more accurately the splicing outcome of your variants, get spliceAI results for indels, search for pseudo-exon insertions predictions and so on... Enjoy!
Working as much as possible on a new internal server intended to bring you asap the brilliant and powerful spliceaivisual from @JMdeSteAgathe right into #mobidetails mobidetails.iurc.montp.inserm.fr/MD/
New API endpoint in MD dealing with VCF strings (like 1-216422237-G-A) - Can be used in the search engine to generate new annotations! Have a look at the search engine manual mobidetails.iurc.montp.inserm.fr/MD/#search_eng… or at the swagger mobidetails.iurc.montp.inserm.fr/MDAPI/#/MDAPI%… #mobidetails
guess what? #mobidetails poster award winner at #AssisesGenetique2022 @metropoleRennes ! Many thanks to @bioinfodiag !! 🍻
MobiDetails new version is online since yesterday morning - so far so good a few minor bugs that have been patched today. #mobidetails mobidetails.iurc.montp.inserm.fr/MD/
Mobidetails major upgrade due to 2022/02/14 (next monday morning). So excited to finally release it! Service interruption planned #mobidetails mobidetails.iurc.montp.inserm.fr/MD/
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