MSc Genomics
Interested in Bioinformatics & Variant Analysis
Currently working on pathogenicity prediction
I am building a public bioinformatics portfolio focused on genomics, transcriptomics, variant analysis, workflow automation, and reproducible research.
| Project | Focus | Skills demonstrated |
|---|---|---|
alpharing-sarscov2-validation |
SARS-CoV-2 spike missense variant effect prediction | R, Python, ROC/AUC, SHAP interpretation, structural bioinformatics |
rnaseq-deseq2-workflow |
RNA-seq differential expression analysis | DESeq2, R, PCA, volcano plots, heatmaps, transcriptomics |
tcga-cancer-expression-analysis |
TCGA breast cancer expression and immune signature analysis | Large-scale expression data, PCA, immune scoring, tumour transcriptomics |
variant-calling-workflow |
Real-data bacterial variant calling | FASTQ, FASTA, BAM, VCF, FastQC, BWA, SAMtools, BCFtools |
nextflow-variant-calling-pipeline |
Workflow-managed variant-calling pipeline | Nextflow, samplesheets, reproducible pipelines, workflow automation |
bioinformatics-utilities |
Python utilities for FASTA, FASTQ and VCF parsing | Python, CLI tools, file parsing, QC summaries, testing |