Computational genomics · Rare-disease research
Taimoor Khan
Bioinformatician and clinical genomics researcher working at the intersection of rare-disease whole-exome sequencing, phenotype-driven variant interpretation, and reproducible computational workflows.
I combine molecular biology, clinical genomic interpretation, and software development to turn complex sequencing data into carefully evaluated, evidence-aware findings.
Profile
From sequencing data to defensible interpretation
I am a bioinformatician at the Advanced Center for Genomic Technologies, Public Health Reference Laboratory, Khyber Medical University, Peshawar. My work focuses on end-to-end analysis and interpretation of whole-exome sequencing data for suspected rare genetic disorders.
I routinely integrate variant quality, population frequency, inheritance, phenotype, segregation, gene–disease validity, published cases, functional evidence, and read-level review in IGV. I apply ACMG/AMP guidance while keeping computational prediction in its proper supporting role.
My background spans wet-lab molecular biology and computational genomics, including PCR, Sanger sequencing, NGS library preparation, variant calling, annotation, filtering, reporting, and research communication.
I am completing a PhD in Molecular Biology & Genetics at Khyber Medical University. My research interests include rare-disease genomics, clinical bioinformatics, structural variation, tandem repeats, and practical decision-support systems for genomic interpretation.
Expertise
Clinical genomics, computation, and molecular biology
Variant interpretation
ACMG/AMP classification, phenotype-driven prioritization, genotype–phenotype correlation, inheritance and segregation analysis, HGVS nomenclature, literature curation, and clinical reporting.
NGS and bioinformatics
Whole-exome sequencing, targeted panels, quality control, alignment, variant calling, annotation, filtering, VEP, GATK, Snakemake, IGV, structural variants, and tandem repeats.
Computational development
Python, R, Bash, Linux, SQL, Git/GitHub, reproducible workflows, custom scripts, data processing, workflow troubleshooting, and validated AI-assisted development.
Experience
Professional experience
Bioinformatician — Clinical Genomics & Rare-Disease WES Interpretation
- Analyze and interpret WES data for patients with suspected rare genetic disorders.
- Completed 28 rare-disease cases in one year with approximately 50% molecular diagnostic resolution through integrated genomic and clinical review.
- Perform ACMG/AMP evidence assessment, IGV read-level validation, literature review, phenotype matching, multidisciplinary discussion, and report preparation.
- Contributed analysis for BRCA1/2 testing and more than 25 targeted myeloid-malignancy samples using a 58-gene panel.
Research Assistant
Conduct WES analysis for neurodevelopmental, neuromuscular, skeletal, ophthalmological, hearing, and other inherited disorders, with particular experience in consanguineous Pakistani families and inheritance-aware analysis.
Research Officer — Phenotype Recruitment
Coordinated structured clinical phenotype collection for the Pakistan Genomic Resource complex-traits study and worked with clinical and genomics teams to improve data quality for downstream analyses.
Selected work
Projects built around practical scientific problems
VARDIGS
Developer and scientific lead. A clinical genomics decision-support platform integrating variant annotation, phenotype information, evidence assessment, ACMG-oriented review, case management, and traceable reporting workflows.
Pronto Primer
A guided, browser-based primer-design tool for human genomic regions, created to make a common molecular workflow faster and easier to use.
ACMG Workbench
An educational interface for exploring how ACMG/AMP evidence codes combine, with clear limits around professional interpretation and clinical use.
BCM Bioinformatics Hackathon
Contributed to a collaborative 2026 project on tandem-repeat and structural-variant analysis, including insertion annotation, genomic context, and phenotype-oriented prioritization.
Research
Selected peer-reviewed publications
Whole exome sequencing: Unlocking the molecular diagnostic odyssey in Pakhtun ethnic group of Pakistani population
Contributed variant annotation, filtering, and interpretation for a rare-disease WES cohort involving 272 families, including rare and population-specific variation.
Whole exome sequencing in 33 patients revealed 4 novel variants in 11 limb-girdle muscular dystrophy families
Contributed variant analysis, ACMG/AMP evidence assessment, and genotype–phenotype correlation in inherited neuromuscular disease.
Education and teaching
Training across molecular biology and bioinformatics
Education
- PhD, Molecular Biology & Genetics — Khyber Medical University, 2026–present
- Postgraduate Certificate, Bioinformatics — Shifa Tameer-e-Millat University, 2025–2026
- M.Phil, Molecular Biology — Islamia College Peshawar, 2023–2025; GPA 3.99/4.00
- BSc (Hons), Biotechnology & Genetic Engineering — University of Agriculture, Peshawar, 2017–2021; GPA 3.75/4.00
Scientific communication
Between 2024 and 2026, I organized and delivered six national training events covering NGS analysis, Linux bioinformatics, sequencing workflows, variant interpretation, and rare-disease genomics, reaching more than 50 researchers, clinicians, students, and early-career scientists.
I also write practical, evidence-aware science guides through Sci Chores in English and Urdu.
Research, genomics, or educational collaboration
For research collaboration, bioinformatics training, scientific communication, or professional enquiries, please use the Sci Chores contact page or email taimoorkhan@kmu.edu.pk.