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TREESA-ISSEN/README.md

Hi, I'm Treesa Issen 👋

🧬 Bioinformatician | NGS Analysis | ACMG Variant Interpretation | Human Genomics
📍 CSIR-IGIB, New Delhi, India
🔗 ORCID

🔬 What I Work On

  • Whole Exome Sequencing (WES) variant analysis
  • ACMG/AMP variant classification for rare diseases
  • CNV analysis using Illumina GSA arrays
  • Clinical genomics pipelines (GATK, BWA, Samtools)

🧰 Tools & Skills

Python R Bash GATK BWA Samtools Picard
GenomeStudio IGV `

📁 Featured Projects

📫 Reach me via ORCID

Pinned Loading

  1. cnv-analysis-genomestudio-gsa cnv-analysis-genomestudio-gsa Public

    Pipeline, scripts, and documentation for CNV analysis using GenomeStudio and GSA array data, with downstream interpretation for clinical and research applications.

  2. igv-snapshot-automation igv-snapshot-automation Public

    Python and Bash automation scripts for generating and running IGV batch snapshots across multiple BAM files and genomic regions — developed at CSIR-IGIB for rare disease WES variant visualization

    Python

  3. rare-disease-exome rare-disease-exome Public

    GATK-based WES pipeline for variant calling and ACMG classification of rare disease cohorts (Wilson's, ASD, EEP, DMD) at CSIR-IGIB

    Shell

  4. variant-population-frequency-analysis variant-population-frequency-analysis Public

    R pipeline for population-specific variant frequency analysis using gnomAD data — includes MAF calculation, Fisher's Exact Test with Bonferroni correction, and bubble plot visualization across 11 g…

    R