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variant-calling

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Bioinformatics pipeline for Illumina human exome variant calling using FastQC, Trimmomatic, BWA, Samtools, Bcftools, and SnpEff. Demonstrates a reproducible workflow for NGS data analysis. #bioinformatics #genomics #variant-calling #ngs #pipeline

  • Updated May 16, 2025
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This repository provides a comprehensive module on graphical pangenomics, guiding users through building, indexing, mapping, and visualizing pangenome graphs. The module runs on Google Cloud Platform using Jupyter notebooks and includes tools like PGGB, vg, BLAST, and Bandage.

  • Updated Jun 6, 2025
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End-to-end NGS variant calling and functional annotation pipeline for Limulus polyphemus using GATK and SnpEff, with biological interpretation of high-impact immune and metabolic variants.

  • Updated Dec 13, 2025
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