MoBiDiC_BioInfo @MoBiDiC_BioInfo

Bioinformatics from Montpellier University Hospital. Author of "MobiDetails: online DNA variants interpretation" in EJHG. Read here: https://t.co/dSqiLxEaPA github.com/mobidic Joined October 2020

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

2 years ago

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/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

2 years ago

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!

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

2 years ago

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/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

2 years ago

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

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bioinfodiag @bioinfodiag

2 years ago

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

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

2 years ago

Then if you are, please read mobidetails.iurc.montp.inserm.fr/MD/about#clinv…! It's already here! #mobidetails

MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

Then if you are, please read mobidetails.iurc.montp.inserm.fr/MD/about#clinv…! It's already here! #mobidetails

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

Would you be interested in such a feature? #mobidetails mobidetails.iurc.montp.inserm.fr/MD/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

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

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

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

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

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/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

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/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

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/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

Trick: click on a gene symbol to display and follow some useful, gene-centered, links. #mobidetails mobidetails.iurc.montp.inserm.fr/MD/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

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/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

3 years ago

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!

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

4 years ago

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/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

4 years ago

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

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

4 years ago

guess what? #mobidetails poster award winner at #AssisesGenetique2022 @metropolerennes ! Many thanks to @bioinfodiag !! 🍻

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

4 years ago

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/

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MoBiDiC_BioInfo @MoBiDiC_BioInfo

4 years ago

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/