#VariantEffect
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
September 24, 2025 at 6:31 AM
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
December 21, 2023 at 3:56 PM
Multiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @natrevgenet.nature.com
www.nature.com/articles/s41...
July 29, 2025 at 3:02 PM
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
August 29, 2025 at 2:36 PM
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
August 4, 2025 at 4:40 PM