#VariantAnnotation

OpenCravat.bsky.social

@opencravat.bsky.social

2 months ago

Looking for new ways to enrich your variant data? 🔍

We’ve made it simple to browse the OpenCRAVAT ecosystem. From ClinVar and gnomAD to calibrated variant effect predictions and visualization widgets, see what the store has to offer!

🍌 ocstore.opencravat.org

#Genomics #VariantAnnotation #BioSky

PuckerLab publications

@puckerlabpapers.bsky.social

7 months ago

NAVIP: Unraveling the influence of neighboring small sequence variants on functional impact prediction Once a suitable reference sequence has been generated, intra-species variation is often assessed by re-sequencing. Variant calling processes can reveal all differences between strains, accessions, gen...

NAVIP: Unraveling the Influence of Neighboring Small Sequence Variants on Functional Impact Prediction
doi.org/10.1371/jour...

#Bioinformatics #VariantCalling #VariantAnnotation #FunctionalGenomics #Genomics #PlantSci #DataScience #OpenData #OpenAccess #BigData #Python #100DaysOfCode

Javier Santoyo

@jsantoyo.bsky.social

8 months ago

AdaGenes: A streaming processor for high-throughput annotation and filtering of sequence variant data. #GeneticVariants #VariantFiltering #VariantAnnotation #VCFs #Genomics #Bioinformatics @biorxiv-bioinfo.bsky.social‬ 🧬 🖥️
www.biorxiv.org/content/10.1...

OpenCravat.bsky.social

@opencravat.bsky.social

1 year ago

🖥️ New to OpenCRAVAT? Explore our Vignettes—tutorials designed for easy genomic variant analysis! 🧬

📖 Learn to:
✅ Annotate variants
✅ Interpret results for clinical & research
✅ Utilize powerful analysis tools

Start here: karchinlab.github.io/oc_vignettes/

#Genomics #VariantAnnotation #OpenSource

Javier Santoyo

@jsantoyo.bsky.social

1 year ago

VAREANT: a bioinformatics application for gene variant reduction and annotation AbstractMotivation. The analysis of high-quality genomic variant data may offer a more complete understanding of the human genome, enabling researchers to

VAREANT: a bioinformatics application for gene variant reduction and annotation. #GeneticVariants #VariantAnnotation #Bioinformatics #Genomics @bioinfoadv.bsky.social 🧬 🖥️
academic.oup.com/bioinformati...

OpenCravat.bsky.social

@opencravat.bsky.social

1 year ago

🎁 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

OpenCravat.bsky.social

@opencravat.bsky.social

1 year ago

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.

#12DaysofOpenCRAVAT #Genomics #VariantAnnotation