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de.NBI & ELIXIR Germany
de.NBI & ELIXIR Germany
@denbi.bsky.social
2 weeks ago
Practical Variant Effect Prediction with Deep Mutational Scanning Data with Polina Polunina
Practical Variant Effect Prediction with Deep Mutational Scanning Data with Polina Polunina YouTube video by GHGA - The German Human Genome-Phenome Archive

πŸŽ₯ New Webinar Recording Online! πŸŽ₯

Missed our session on Variant Effect Prediction with @denbi.bsky.social & @ghga.bsky.social? πŸ§ͺ

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

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Atlas of Variant Effects Alliance
Atlas of Variant Effects Alliance
@varianteffect.bsky.social
2 months ago
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We’re happy to share our 2025 Annual Report!
A year of "momentum and connections"!
➑️ zenodo.org/records/1833...
#AnnualReport #GlobalAlliance #FunctionalGenomics #VariantEffect #Community

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Mihaly Badonyi
Mihaly Badonyi
@mbadonyi.bsky.social
6 months ago

Happy to share that πšŠπšŒπš–πšπšœπšŒπšŠπš•πšŽπš› is now on CRAN! πŸŽ‰
This means long-term stability and easy installation with:
πš’πš—πšœπšπšŠπš•πš•.πš™πšŠπšŒπš”πšŠπšπšŽπšœ('πšŠπšŒπš–πšπšœπšŒπšŠπš•πšŽπš›')

πŸ—žοΈ doi.org/10.1093/bioi...

#rstats #acmg #varianteffect #MAVEs #VEPs #genomics

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Atlas of Variant Effects Alliance
Atlas of Variant Effects Alliance
@varianteffect.bsky.social
7 months ago
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Critical Assessment of Genome Interpretation (CAGI) challenges are live! πŸ§¬πŸ’»
genomeinterpretation.org/cagi7-challe...
A total of 12 challenges have launched Including #DeepMutationalScanning Challenges
⏰ Deadlines approaching! #CAGI #GenomeInterpretation #VariantEffect

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Atlas of Variant Effects Alliance
Atlas of Variant Effects Alliance
@varianteffect.bsky.social
7 months ago
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Ever wondered how your genes shape your health? Dive into the Variants and Us (VUS) Podcastβ€”where cutting-edge science meets real-world impact.
🎧 varianteffect.org/podcast/
#Genetics #RareDisease #VariantEffect #SciencePodcast #PersonalizedMedicine

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Javier Santoyo
Javier Santoyo
@jsantoyo.bsky.social
8 months ago
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Multiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @natrevgenet.nature.com
www.nature.com/articles/s41...

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Jacob Kitzman
Jacob Kitzman
@jacobkitzman.bsky.social
2 years ago
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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

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