🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Expanding #SPTAN1 Monoallelic Variants Associated Disorders: from Epileptic #Encephalopathy to Pure #SpasticParaplegia and #Ataxia 👇👇👇 authors.elsevier.com/sd/article/S10… UCL Queen Square Institute of Neurology Genomics England Centre for Translational Bioinformatics QMUL-WHRI Fire of life #RareDisease

Check out Eye2Gene and preprint under review Nature Portfolio 👇 researchsquare.com/article/rs-211… A #deeplearning algorithm, trained on the largest #imaging dataset of #InheritedRetinalDiseases, provides expert-level accuracy for genetic diagnosis (top-5 accuracy = 85.6%)

📢#RareDisease talks are now part of the annual meeting programme of the London Genetics Network, together with #CommonComplex genetics 🙌 Are you an ECR? You can submit an #abstract for flash talks - *prices* available! 🎉 Sign up for the event and check out the full programme below 👇

‼️Reminder‼️ ECRs are encouraged to submit abstracts for flash talks (3min) on genetics of #rareDiseases or #complexTraits. There will be prizes for the best talks!🏅💷 Send abstracts to [email protected]. More info on our website londongeneticsnetwork.com/annualmeeting/

The Mundlos lab has open postdoc positions in the field of gene regulation, lncRNAs and evolutionary genomics. Fantastic environment at the MPI for Molecular Genetics. nature.com/naturecareers/…

Think quantitatively! Common disorders are quantitative traits. Fascinating talk by prof Robert Plomin at the #LGN2022 annual meeting London Genetics Network

📢#LGN2022 folks, please share your thoughts Is there still a divide between #RareDisease and common #ComplexGenetics? Thrilled to share my thoughts with you after lunch at the London Genetics Network annual meeting, before keynote rare disease speaker Korbonits Lab William Harvey Research Institute Centre for Translational Bioinformatics QMUL-WHRI

Two of our lab's projects are finalists for the open data science prize, please vote for #N3C or Monarch Initiative #raredisease #openscience #covid #omop #ontologies #teamscience #dataintegration #standards herox.com/dataworks AMIA Int Soc Biocuration OHDSI ISCB News

🙏 re-tweet or apply! We are #hiring! 📢📢A 3-year Research Fellow post in #genomics is available UCL Great Ormond Street Institute of Child Health with close links with Queen Mary University of London University of Dundee to study the #genetics of #RareDisease bronchiectasis ** Deadline: 21 March 2023 👇👇👇 ucl.ac.uk/work-at-ucl/se…

Couldn't be more timely.

We are hosting the South of England Genetic Epidemiology Group (SEGEG) meeting at the University of Exeter on July 1st! Registration is free and now open - forms.office.com/e/tengc4eKLk

Look forward to the #genomes for #undiagnosed session at 10:30AM and delivering our talk on gene burden analysis of the #100KGP data! Also so exciting to be at the #ESHG2024 with the whole team WHRI-Phenogenomics William Harvey Research Institute Centre for Translational Bioinformatics QMUL-WHRI Barts and The London, Queen Mary

#ESHG2024 Any #bioinformaticians interested in joining my lab in Cape Town? #postdoc position available- benefit real ppl with #RareDiseases, work on interesting datasets, and live in the most beautiful city in the world! Pls get in touch! Open to international candidates.

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