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#genomics

8 posts6 participants0 posts today

NHS England in Talks on UK Biobank Access to GP Patient Data byteseu.com/950722/ #ArtificialIntelligence #AtrialFibrillation;AF;Afib;AFib;Afib;AFib;AtrialFib;AtrialFibrillation(AF);AtrialFibrillation(AFib) #BiologicTherapy #Biologics #depression #Genomics;GenomicMedicine #GreatBritain #NationalHealthService #NHS #PrimaryCare #UK #UKNationalHealthService #UKNHS #UKSiteContent;UnitedKingdomSiteContent #UnitedKingdom #UnitedKingdomNationalHealthService

Our research is now supported by a 2024 Simons Foundation Autism Research Initiative (SFARI) Pilot Award, co-funded by the Nancy Lurie Marks Family Foundation (NLMFF). I am grateful to both SFARI and NLMFF for investing in high-risk, high-reward science to advance understanding of autism spectrum disorders (ASD) and neurodevelopmental disorders.

The project will explore how mutations in chromatin regulators ASH1L and SETBP1 impair their crucial role in guiding the development of GABAergic neurons—key cells maintaining the brain’s balance between excitation and inhibition. Disruptions in this process are strongly linked to ASD, but the molecular pathways remain poorly understood.

By integrating genomic, proteomic, and functional approaches, we aim to reveal how these enzymes regulate gene activity during inhibitory neuron development and how their dysfunction contributes to ASD.

Official announcements:
SFARI: sfari.org/2025/04/08/announcin
NLMFF: nlmfoundation.org/grant/epigen

SFARI · SFARI | Announcing the Recipients of the 2024 Pilot and Pilot Progression AwardsThe Simons Foundation Autism Research Initiative is pleased to announce funding for 23 projects as part of its 2024 Pilot and Pilot Progression awards.

I wanna get back into software dev (just as a hobby for now), and it would be super cool to contribute to open source creative coding software (strudel, hydra, etc.) or something biotech/‘omics related, as I studied that at uni, but I just have no clue whatsoever where to start…

If anyone out there has any tips that would be greatly appreciated 🙏🏿

Continued thread

💡 Join our tutorial to explore the new Ensembl platform and Ensembl VEP (Variant Effect Predictor). Gain hands-on experience with the updated interface and learn to analyse and annotate various genomic data.

👉 Register here: tinyurl.com/3y8ay2d6

🔹 Workshop organized by Jorge Batista da Rocha, Louisse Mirabueno and Aleena Mushtaq (EMBL-EBI)

@P_Palagi @valentynbez
#Genomics #Ensembl #bc2basel #BioinformaticsTraining

Anyone else finding the sequencing costs appear to be getting more expensive rather then continuing to decline. I'm thinking its likely related to inflation, wages and current US uncertainty...? oh and Illumina and alike only delivering true reduced cost/GB on large scale flowcells, which aren't suitable for many small to medium size projects...
#genomics #bioinformatics

GHGA Retreat – Day 1 at Kloster Schöntal kicked off with exciting discussions on a wide range of topics! From data portals to international connectivity (#FEGA, #ELIXIR, #EOSC), legal challenges, patient communication, and training plans, GHGA 2 is taking shape across all fronts. Perspectives from data producers and data hubs, along with workflow use cases, rounded off a fantastic first session. #GHGA #GHGAretreat #Genomics #OpenScience #Collaboration

#Genetic data site #openSNP to close and delete data over #privacy concerns
openSNP, a platform for sharing genetic and phenotypic data, will shut down, and delete all user submissions over privacy concerns and risk of misuse by authoritarian governments.
Announced earlier this week by co-founder Bastian Greshake Tzovaras, who expressed concerns about how personal #genomics data is subject to abuse today and how fundamentally landscape has changed over the last 14 years.
bleepingcomputer.com/news/secu