#variantannotation — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #variantannotation, aggregated by home.social.
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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🖥️ 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 analysisStart exploring here: https://karchinlab.github.io/oc_vignettes/
Have questions or feedback? Drop us a comment! 💬
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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🧬 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 🖥️ -
🎁 On the 2nd day of #OpenCRAVAT, my software gave to me…
✨ Two New Example Inputs!
Test OpenCRAVAT with hgvs and dbsnp inputs. Perfect for trying the software before running your data!
🔗https://buff.ly/3BapIgP & https://buff.ly/49l5yNJ
#12DaysofOpenCRAVAT #VariantAnnotation