Pipeline release! nf-core/raredisease v3.0.0 - 3.0.0 - Mario!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.0.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
Pipeline release! nf-core/raredisease v2.6.0 - 2.6.0 - Cacofonix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.6.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
Pipeline release! nf-core/raredisease v2.5.0 - 2.5.0 - Fulliautomatix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.5.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
🖥️ New to OpenCRAVAT?
Check out our OpenCRAVAT Vignettes—a collection of hands-on tutorials designed to help you analyze genomic variants with ease! 🧬
📖 Learn step-by-step how to:
✅ Annotate variants using OpenCRAVAT
✅ Interpret results for clinical & research applications
✅ Leverage powerful tools for variant analysis
Start exploring here: https://karchinlab.github.io/oc_vignettes/
Have questions or feedback? Drop us a comment! 💬
Pipeline release! nf-core/raredisease v2.4.0 - 2.4.0 - Vitalstatistix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.4.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
🧬 We Want Your Feedback! 🧬
Do you use variant annotation software? We’re gathering insights from the genomics community to improve OpenCRAVAT and understand what features matter most to you.
💡 Take this quick survey (it takes less than 2 minutes!): https://shorturl.at/iOvMt
📌 Your input will help shape better tools for researchers, clinicians, and data scientists.
📸 Scan the QR code below to participate!
🔁 Share with colleagues who use variant annotation tools!
Pipeline release! nf-core/raredisease v2.3.0 - 2.3.0 - Getafix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.3.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
🧬 New Blog by Dr. Rachel Karchin!
Dr. Karchin shares how OpenCRAVAT and CIViC are addressing transparency and interpretability in variant effect predictors. Discover how calibrated predictors are transforming clinical variant classification.
🔗 Read the full post: https://www.opencravat.org/variant-effect-predictors-in-the-clinic-working-with-calibrated-predictors-in-opencravat/
What are your thoughts on the new ACMG/AMP framework integration? Let us know below!
#Genomics #VariantAnnotation #OpenCRAVAT 🖥️
Computational methods for predicting the effects of genetic variants are used by clinicians for interpreting genetic test results and by researchers for scientific exploration. However, their utility is limited by several issues. First, hundreds of methods are available without clear standards for s
🎉 Get ready for a holiday adventure in variant annotation! 🎄
Starting December 1st, we’re launching the 12 Days of OpenCRAVAT—an adventurer’s guide to mastering genomic variant analysis. Each day, discover powerful tools, tips, and features designed to make your research faster, easier, and more insightful.
Follow us to join the countdown and explore new ways to enhance your analysis!
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