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Just realized that you can now be considered “installed in the field” #eshg2024 when you know what the Genome Aggregation Database logo represents ! 🤣#exac #coverage #timeflies

🚨📢 Habemus program for #ESHG2025 ! Get ready for Milan 24-27 May 2025 🇮🇹 European Society of Human Genetics (ESHG)

▶️New evidence for Tatton-Brown-Rahman syndrome's clinical and molecular spectrum ▶️Second largest cohort of individuals with TBRS ▶️New phenotypes: Localised congenital hypertrichosis & early onset puberty in females 👀 bit.ly/3WerRQg Nico Chatron

💡 Et si on était obligés de lier un numéro de portable perso à notre fiche RPPS dans un espace réservé aux pros ? Pas bien compliqué tout de même…

Genomes, non-coding variants, diagnoses++ and huge collab : awesome times for genomics ! Glad to be part of this 👇Bravo Christel Depienne

A new editorial describes the science behind a study linking a severe neurodevelopmental disorder with deletions in a gene (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) that encodes a long noncoding RNA. Read the full editorial: nej.md/4hkctuu

Thank you to Prof. Ling-Ling Chen and the illustrators and editors at NEJM for nicely summarizing our study and its implications. 🙏

🚨New 🧬disease mechanism described. 🤞Hope this will help to end other odysseys. Excited for Coalition to Cure CHD2 ! Amazing being part of this with Vijay Ganesh Anne O'Donnell-Luria Gemma Carvill, PhD Igor Ulitsky 💔 bezieau Daniel MacArthur CHASERR lncRNA Dad and many others 👇🍾HCL | Recherche en santé AURAGEN

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

Proud to be the first geneticist to have reached the 1000th genome on the AURAGEN laboratory of the french national genomic plan (PFMG 2025) 😊. Mainly for patients with rare epilepies. Please to share with you my price 😄 [HCL]_§Team_§ AURAGEN EpiCARE International League Against Epilepsy #pfmg2025

2 PLACES POUR LE GRAND PRIX DE MONACO À GAGNER 🤩🇲🇨   🌟 Pour participer : - RT ce post - Abonnez-vous à @canalplusf1   BONUS : Doublez vos chances sur tous nos réseaux 🤞   Tirage au sort le 21/05 🍀   Règlement en bio.

The #eshg2025 virtual platform & the ESHG 2025 app are now online! Read through our tips of using the platform, check out the conference programme and prepare your visit to Milan today: 2025.eshg.org/myconference/h… and 2025.eshg.org/myconference/c…

Just arrived in 🇮🇹 Milan for #eshg2025 . Train 20 minutes ahead of time… Never seen such miracle on the other side of the Alps 🇫🇷. Ready for 🧬!!!

Day#1 at #eshg2025 Amazing long read génome session. Already astonished by the speakers of this “prologue”.

Fully packed room for #eshg2025 chromosomal structural variants workshop session. Cytogeneticists are in the place !

To give the better for patients, team work is crucial . I am part of an amazing one. Some gathered in Milan #ESHG2025 for 4 exciting days of science and networking, thanks 🙏 to others that stayed HCL - Hospices Civils de Lyon Gaetan Lesca Januel Louis

Desperately browsing #ESHG2025 app to find next session…. But game is over 🥺looking forward to #ESHG2026 ! See you all (and more) in Gothenburg 🇸🇪

🚨It is sometimes a difficult exercise but the assembly of the pieces of the #ESHG2026 program is completed. 🤩👏 to an amazing team 🎉👍Stay tuned and see you in Gothenburg ! 🇸🇪