MoBiDiC_BioInfo

Bioinformatics from Montpellier University Hospital.
Author of "MobiDetails: online DNA variants interpretation" in EJHG. Read here:

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

MobiDetails: online DNA variants interpretation in @ejhg_journal just published. Read it at https://t.co/bq67Nawr7T and share! #mobidetails

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

As some of you may have noticed, we migrated the #mobidetails timeline to mastodon, a decentralized open-source social network. News now at https://t.co/WUEk9LiHz8.
https://t.co/UjdwryZhzp

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

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!

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

@gagneurlab Thanks @gagneurlab for providing such amazing tools and datasets to the community! We do our best to make these works available to everyone.

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Interested in DNA variant interpretation, HGVS nomenclatures, ACMG classification? Check out @VEPTCOURSE !! Barcelona, 2-4 October. Details at https://t.co/qMmF0B54j1. MobiDetails will be present with a 1,5h workshop days 2 and 3!!! #mobidetails #VEPTC2023 https://t.co/UjdwryZhzp

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

New Mobidetails version released yesterday including pre-computed AbSplice predictions from @gagneurlab, some bug fixes and UI experience improvements. More at https://t.co/PhW7cn8cwC! #mobidetails #bioinformatics #geneticmutations

[bioinfodiag @bioinfodiag]

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 : https://t.co/9SqEhSvu9m

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Then if you are, please read https://t.co/BweZDLnVvs! It's already here!
#mobidetails

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Would you be interested in such a feature? #mobidetails https://t.co/UjdwryZhzp

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Would you be interested in such a feature? #mobidetails https://t.co/UjdwryZhzp

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

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!! https://t.co/l6ULvx44z3

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

@Vision_INM @umontpellier @InsermOccMed thanks for mentioning the paper and the platform!

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

@JMdeSteAgathe great news! I hope people will adopt it (and that our server will take the load 😅)

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Glad to announce the release of the SpliceAI-visual paper: https://t.co/ekGU6XI5QN a collaborative work based on an original idea of @JMdeSteAgathe - don't hesitate to share! Available now in #mobidetails https://t.co/mHmf5983OM

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

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 https://t.co/UjdwryZhzp

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

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 https://t.co/UjdwryZPoX

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

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 https://t.co/UjdwryZPoX

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

Trick: click on a gene symbol to display and follow some useful, gene-centered, links. #mobidetails https://t.co/UjdwryZhzp

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

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 https://t.co/UjdwryZPoX

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

@SGorokhova Thanks for the retweet - the correct URL is https://t.co/UjdwryZhzp

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

@LecomeLego tant mieux si ça te plait!!

[MoBiDiC_BioInfo @MoBiDiC_BioInfo]

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!