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Somatic repeat expansion field is getting more interesting!! David Pellerin⁩ ⁦National Ataxia Foundation⁩ ⁦Ataxia Global Initiative⁩ ⁦FA Research Alliance⁩ #Sca27b ⁦Bill Nye⁩ “Somatic instability of the FGF14-SCA27B GAA•TTC repeat with expansion in cerebellum” academic.oup.com/brain/advance-…

The catalog of all possible SNVs altering existing upORFs or creating new ones (via both canonical  and non canonical TIS) in human transcripts is available on the mobidetails platform ( mobidetails.iurc.montp.inserm.fr/MD/) @soukarieh_omar BORDEAUX POPULATION HEALTH Center University of Bordeaux

Our preprint is online. CCG interruptions are unstable and hypermethylated in DM1 patients. biorxiv.org/cgi/content/sh…. A great collaborative effort! Thank you to all the authors. Sarah Kingan PacBio Centre of Research in Myology (UMRS 974) Institut de Myologie Institut Curie DM1Research DM-Scope

More than CAG repeats: Dawson et al. report the largest & most diverse cohort of individuals in a single study with sequence variants in HTT and explore how sequence variants influence age-of-onset in #HuntingtonDisease bit.ly/3BHe11c

Excited to report our study in NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause of a newly defined human neurodevelopmental disorder 🧠. 🧵1/10 nejm.org/doi/full/10.10…

I am excited to share our latest research findings with you. We have identified a new group of neurodevelopmental disorders, which we are calling "TRICopathies," caused by de novo mutations in genes encoding the subunits of the TRiC complex. 1/8 science.org/doi/10.1126/sc…

Highly expanded repeats in the 5’ UTR of GLS cause a dominant DNA-repeat disorder. Carriers of expanded GLS repeats had 14-fold [5.7–34.3] increased odds of stage 5 CKD. These associations appeared to be driven by toxicity of expanded alleles rather than loss of GLS function.

Christel Depienne …and the RNU4 (and 6) story gets even more exciting! See latest preprint coordinated my wonderful colleagues from the eye genetics field: medrxiv.org/content/10.110…

Profiling tandem repeats variations in the population using 1027 long read genomes from All of Us cohort. All the samples are from individuals of African and African American ancestries. I remember hearing about this dataset first time at ASHG 2022. Great to see the data out

One more week until the abstract submission deadline for #eshg2025 #hybridconference! Do not forget to submit your abstract until Thursday, January 30, 2025, 23.59 h CET. All information can be found on our website: 2025.eshg.org/abstracts/ #genetics #genomes

Join us live online for the 2025 Annual Meeting, taking place April 5–9!

Beautiful, impactful work from Nicky Whiffin, Greg Findlay et al: Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders medrxiv.org/content/10.110…

Quand j’ai besoin de me concentrer, je joue ça. C’est redoutable. Je suis Joss Beaumont. Chi Mai | Ennio Morricone | 1971.

Amandine Santini presents their recently published paper on dominant variants in U4 & U5 small nuclear RNA genes that cause NDD. They report 145 new RNU4-2 individuals & implicate RNU5B-1 as novel NDD gene & RNU5A-1 as strong strong candidate. #ESHG2025 nature.com/articles/s4158…

They established transcriptomic profiles as RNU4-2 cause defects in alternative 5’ splice site usage. Also established an episignature for ReNU syndrome. #ESHG2025

Warm congrats to Amandine Santini who presented on behalf of an international collaboration led by the great Christel Depienne, on the major RNU4-2 small non coding RNA gene explaining 0.4% patients with a neurodev disorder and identification of at least 1 novel gene RNU5B-1

We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes nature.com/articles/s4158…

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