🎥 New Webinar Recording Online! 🎥
Missed our session on Variant Effect Prediction with @denbi.bsky.social & @ghga.bsky.social? 🧪
Polina Polunina explains how to use Deep Mutational Scanning data 🧬✨
Check it out on YouTube:
www.youtube.com/watch?v=WY-b...
#VariantEffect #DMS #Bioinformatics
We’re happy to share our 2025 Annual Report!
A year of "momentum and connections"!
➡️ zenodo.org/records/1833...
#AnnualReport #GlobalAlliance #FunctionalGenomics #VariantEffect #Community
Happy to share that 𝚊𝚌𝚖𝚐𝚜𝚌𝚊𝚕𝚎𝚛 is now on CRAN! 🎉
This means long-term stability and easy installation with:
𝚒𝚗𝚜𝚝𝚊𝚕𝚕.𝚙𝚊𝚌𝚔𝚊𝚐𝚎𝚜('𝚊𝚌𝚖𝚐𝚜𝚌𝚊𝚕𝚎𝚛')
🗞️ doi.org/10.1093/bioi...
#rstats #acmg #varianteffect #MAVEs #VEPs #genomics
Critical Assessment of Genome Interpretation (CAGI) challenges are live! 🧬💻
genomeinterpretation.org/cagi7-challe...
A total of 12 challenges have launched Including #DeepMutationalScanning Challenges
⏰ Deadlines approaching! #CAGI #GenomeInterpretation #VariantEffect
Ever wondered how your genes shape your health? Dive into the Variants and Us (VUS) Podcast—where cutting-edge science meets real-world impact.
🎧 varianteffect.org/podcast/
#Genetics #RareDisease #VariantEffect #SciencePodcast #PersonalizedMedicine
Multiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @natrevgenet.nature.com
www.nature.com/articles/s41...
Last paper from the group for 2023, now out at Genome Biology! Led by recent bioinformatics grad Cathy Smith, we used #VariantEffect maps from massively parallel splicing assays (MPSA) to test bioinformatic splicing effect predictors genomebiology.biomedcentral.com/articles/10.... 1/3
