Latest posts tagged with #varianteffect on Bluesky
π₯ New Webinar Recording Online! π₯
Missed our session on Variant Effect Prediction with @denbi.bsky.social & @ghga.bsky.social? π§ͺ
Polina Polunina explains how to use Deep Mutational Scanning data π§¬β¨
Check it out on YouTube:
www.youtube.com/watch?v=WY-b...
#VariantEffect #DMS #Bioinformatics
Weβre happy to share our 2025 Annual Report!
A year of "momentum and connections"!
β‘οΈ zenodo.org/records/1833...
#AnnualReport #GlobalAlliance #FunctionalGenomics #VariantEffect #Community
Happy to share that ππππππππππ is now on CRAN! π
This means long-term stability and easy installation with:
πππππππ.ππππππππ('ππππππππππ')
ποΈ doi.org/10.1093/bioi...
#rstats #acmg #varianteffect #MAVEs #VEPs #genomics
Critical Assessment of Genome Interpretation (CAGI) challenges are live! π§¬π»
genomeinterpretation.org/cagi7-challe...
A total of 12 challenges have launched Including #DeepMutationalScanning Challenges
β° Deadlines approaching! #CAGI #GenomeInterpretation #VariantEffect
Ever wondered how your genes shape your health? Dive into the Variants and Us (VUS) Podcastβwhere cutting-edge science meets real-world impact.
π§ 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....Β 1/3
