Taimoor K.

I help researchers and labs turn sequencing data into results they can trust, from raw reads to well-supported variant calls. What I can do for you: • Build and deploy reproducible NGS pipelines with Snakemake, GATK, Python and R that run on your own machine, an HPC cluster or the cloud • Run the analysis: QC, alignment, variant calling, annotation and filtering for exome, panel and RNA-seq data, including structural variants, repeat expansions, kinship and runs of homozygosity • Interpret variants using ACMG/AMP guidelines, inheritance patterns and phenotype fit, and check the evidence in IGV • Curate gene and variant evidence from ClinVar, gnomAD, OMIM and the literature into clear, referenced summaries Tools I use most: GATK, VEP, SnpEff, Manta, AnnotSV, ExpansionHunter, PLINK, IGV and Snakemake. I use AI tools when they really save time, like drafting code or screening papers, but I review every output myself against the data and the original sources. The final calls are always mine. I also know the wet-lab side, so I can tell when a problem starts at the bench rather than in the code. Tell me what data you have and what you want to find out, and I'll suggest a practical plan.