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razmia02/README.md

Hi, I'm Razmia Sabahat

Bioinformatics Scientist with hands-on experience in NGS data analysis, spanning genomics and transcriptomics. Currently working remotely as a bioinformatics data analyst, where I translate raw sequencing data into reproducible, interpretable results. I have a habit of picking up public datasets and playing around until I find something the original study missed; most of the projects here started exactly that way.

Skills & Expertise

Genomics

  • WGS & WES analysis: preprocessing, alignment, variant calling (GATK Best Practices)
  • Targeted exome sequencing; germline variant filtering & clinical annotation
  • Reference genome alignment (BWA-MEM), post-alignment processing (samtools, Picard)

Transcriptomics

  • Bulk RNA-seq: differential gene expression, non-coding RNA analysis
  • Single-cell RNA-seq (10x Genomics, Seurat): clustering, cell-type annotation, marker identification
  • In progress: Spatial transcriptomics

Pipeline & Software

  • Languages: R, Python, Bash
  • Tools: GATK, FastQC, Fastp, BWA, samtools, bcftools, DESeq2, Seurat
  • In progress: Nextflow pipeline development

Wet Lab

  • DNA/RNA extraction
  • PCR
  • Gel electrophoresis
  • Library QC

Featured Projects

Repository Description Stack
targeted-exome-seq-analysis End-to-end germline variant calling pipeline on cancer predisposition genes Bash, GATK
scRNA_seq_Analysis_Mouse_Brain scRNA-seq analysis of E18 mouse brain; identified 7 neural cell populations R, Seurat
Differential_Expression_Analysis_PTC DEG analysis of papillary thyroid carcinoma (GEO: GSE224356) R, DESeq2
Isoform_Switch_Analysis_HCC Analyzing isoform switches in Hürthle cell carcinoma, using Salmon & IsoformSwitchAnalyzeR (GEO: GSE228870) Bash, R

Currently Learning

  • Spatial transcriptomics analysis
  • Nextflow pipeline development

Connect

Pinned Loading

  1. Isoform_Switch_Analysis Isoform_Switch_Analysis Public

    Analyzing isoform switches in Hürthle cell carcinoma, using Salmon & IsoformSwitchAnalyzeR

    Shell

  2. targeted-exome-seq-analysis targeted-exome-seq-analysis Public

    End-to-end workflow for analyzing exome seq data.

    Shell

  3. Differential_Expression_Analysis_PTC Differential_Expression_Analysis_PTC Public

    Differential expression analysis of papillary thyroid carcinoma dataset obtained from NCBI GEO (GSE224356)

    R

  4. scRNA_seq_Analysis_Mouse_Brain scRNA_seq_Analysis_Mouse_Brain Public

    scRNA seq analysis of mouse brain data from 10x genomics platform.

    R