Jean-Madeleine de Sainte Agathe

[Jean-Madeleine de Sainte Agathe @JMdeSteAgathe]

🤔

[gagneurlab @gagneurlab]

Mobidetails is a very handy web interface for variant interpretation offering now AbSplice precomputed scores. Paste your variants and see aberrant splicing predictions across tissues. Great job by David Baux and colleagues in Montpellier!

[Jean-Madeleine de Sainte Agathe @JMdeSteAgathe]

Glad to announce the publication of our ARF1-related disorder cohort
https://t.co/gDM9vTzyMU
☑️detailed phenotype,
☑️in-silico recommandation
☑️and one very interesting non-truncating splice-site variant
a big thanks to all the collaborators🙏
#epilepsy

[Genome Aggregation Database @gnomad_project]

The #gnomAD browser now includes variant co-occurrence counts by gene. We hope this will help with interpretation of co-occurring variants in the context of recessive conditions. Read more about this feature on our blog post https://t.co/2crfyFxYde #ACMGMtg23

[Jessica Chong @jxchong]

Is there really no repository where someone has processed gene-level conservation metrics, e.g. mean PhyloP per gene? Yes it's basic bioinformatics, but it still takes time.

[Jean-Madeleine de Sainte Agathe @JMdeSteAgathe]

@RuebenaEDawes @MoBiDiC_BioInfo thank you very much, in fact: I am quite honored. We were very inspired by your work, (and humble by your recent brillant publication!!)
it's true, when we knew that your team utilized SpliceAI's absolute scores, we felt quite encouraged. So, thank you🙂

[Jean-Madeleine de Sainte Agathe @JMdeSteAgathe]

😀SpliceAI-visual is out

Wanna go deep and refine your splicing analysis?🔍
access easiliy to SpliceAI absolute scores with https://t.co/7Ze53CrHBl (thx to David Baux #mobidetails)

read the paper: https://t.co/L30sbw9xNc

[Jean-Madeleine de Sainte Agathe @JMdeSteAgathe]

thank you @ensembl for providing the awesome UTRannotator into the rest API. Now, I can stop annoying my bioinformatician and easily access to UTRannotator by simply adding 1&UTRAnnotator=1 in my vep url (check it out https://t.co/gViNychTwB)

[Jean-Madeleine de Sainte Agathe @JMdeSteAgathe]

@bvhalldorsson 😍... It would be great to compare DR with gnomad's recent genome-wide variant depletion z-score (https://t.co/odOWYqcavZ)

[UCSC Genome Browser @GenomeBrowser]

New track! The gnomAD Genomes Mutation Constraint track on the human GRCh38/hg38 genome. This track uses the latest gnomAD data to calculate selection pressure, using relative frequency of variation in 1 kilobase windows across the genome. Try it here:
https://t.co/YWgDZbf8Tk

[Konrad Karczewski @konradjk]

We're excited to share the next phase of work on the gnomAD data. With 76,156 genomes, we took a look at constraint against non-coding regions in a manuscript led by Siwei Chen: https://t.co/YgmlY757dv