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Scafari: Exploring scDNA-seq data. #scRNAseq #Bioconductor #QC #VariantAnalysis #Visualization #Bioinformatics 🧬 🖥️
academic.oup.com/bioinformati...

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PanVA: a visual analytics tool for pangenomic variant analysis. #Pangenomes #VariantAnalysis #DataVisualization #Genomics #Bioinformatics @biorxiv-bioinfo.bsky.social‬ 🧬 🖥️
www.biorxiv.org/content/10.1...

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The June issue of @jmdiagn.bsky.social is now live!

Full issue: jmdjournal.org/issue/S1525-...

#prostatecancer #Pgx #mosiacism #variantanalysis

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Which filter is most useful for your research? Comment below!🔗Filtering Tutorial: docs.opencravat.org/en/latest/Filter-Tutoria...
#12DaysofOpenCRAVAT #VariantAnalysis 🧬 🖥️

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🔎 Day 8: Eight Data Filtering Options! Refine your results with precision: filter by gene, variant type, pathogenicity score, or population frequency.🧵

#12DaysofOpenCRAVAT #VariantAnalysis 🧬 🖥️

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Day 7: Personalize your analysis with OpenCRAVAT! Access numerous annotation tools and refine your focus on certain genes or variants using filters. Automate tasks with Python scripts. Choose input formats.. Export results. Try it locally or in the cloud. #Genomics #VariantAnalysis

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🌟 On the 6th day of #OpenCRAVAT, my database gave to me…Six Gene-Level Insights!

Which insight is most valuable for your research? CHASMplus, REVEL, PolyPhen-2, @gnomad-project.bsky.social, ClinVar, or COSMIC?

Explore OpenCRAVAT at opencravat.org

#Genomics #VariantAnalysis #OpenCRAVAT 🧬 🖥️

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✨ On the 3rd day of #OpenCRAVAT, my tools gave to me…
🎄 Three Custom Report Options!
Choose from TXT, Excel, or Sqlite outputs to fit your workflow. Which report type is your favorite? Reply below!
🔗https://buff.ly/3VlpryC
🔗https://buff.ly/4iewYJj
#12DaysofOpenCRAVAT #Genomics #VariantAnalysis

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Source:
https://www.biorxiv.org/content/10.1101/2023.09.15.558026v3.full

Figure 1.
A) Overview of the bamSliceRScheme
This schematic illustrates the bamSliceR pipeline, designed to efficiently retrieve metrics of variants from target regions across various data types, including DNA-Seq genomic BAMs, RNA Seq genomic BAMs, and RNA-Seq transcriptome BAMs.
B) bamSliceR utility to retrieve metrics of variants fromRNA-Seq transcriptome BAMs.

Source: https://www.biorxiv.org/content/10.1101/2023.09.15.558026v3.full Figure 1. A) Overview of the bamSliceRScheme This schematic illustrates the bamSliceR pipeline, designed to efficiently retrieve metrics of variants from target regions across various data types, including DNA-Seq genomic BAMs, RNA Seq genomic BAMs, and RNA-Seq transcriptome BAMs. B) bamSliceR utility to retrieve metrics of variants fromRNA-Seq transcriptome BAMs.

bamSliceR: a Bioconductor package for rapid, cross-cohort variant and allelic bias analysis. #VariantAnalysis #GenomicDataCommons #R #Genomics #Bioinformatics @biorxivpreprint.bsky.social 🧬 🖥️
www.biorxiv.org/content/10.1...
Github: github.com/trichelab/ba...

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Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data - Human Genomics This comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- and third-generation sequencing technologies (SGS and TGS). It addresses the cr...

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data. #VariantAnalysis #Epigenetics #ShortRead #LongRead #Sequencing #Genomics #Bioinformatics #BestPractices #HumanGenomics 🧬🖥️
humgenomics.biomedcentral.com/articles/10....

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OpenCRAVAT

Exciting news! OpenCRAVAT has a brand-new website AND logo. Check it out at opencravat.org.
🧬 Explore our Single Variant Tool directly on the landing page—annotate a single variant with ease and see how OpenCRAVAT simplifies genomic analysis! 🚀
#Genomics #VariantAnalysis #OpenCRAVAT

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