Academic programmes
Medical & Clinical Genomics
Sequencing-based diagnostics from raw reads to a defensible clinical report, taught through worked cases.
GU-G500 · Advanced Programme
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- Duration
- 12 weeks
- Study hours
- 120 hours
- Study pace
- Modular, 10 hours per week
Who is the programme for?
Clinicians, laboratory scientists and graduate students working with diagnostic sequencing data.
Entry requirements
- Foundational human genetics equivalent to GU-101.
- Basic command-line familiarity.
Learning objectives
- Design and quality-control a diagnostic sequencing workflow.
- Classify sequence variants against established evidence frameworks.
- Write a clinical report that states evidence strength and residual uncertainty.
- Apply consent and data-protection requirements to genomic results.
Curriculum & practical assignments
- 01
Genome architecture and variant classes
Reference genomes, coordinate systems, SNVs, indels, structural and repeat variation.
Assignment: Computational exercise: annotating a variant set against GRCh38.
- 02
NGS pipelines and quality control
Library preparation, alignment, coverage, duplication, batch effects, joint calling.
Assignment: Laboratory-linked assignment: reading QC reports and setting acceptance thresholds.
- 03
Variant interpretation
Evidence criteria, population frequency filtering, segregation, functional and computational evidence.
Assignment: Case studies: five variants classified with written justification.
- 04
Clinical cases and reporting
Phenotype-driven filtering, secondary findings, reanalysis and reclassification.
Assignment: Case study: full diagnostic report for an undiagnosed paediatric case.
- 05
Ethics, consent and governance
Broad and dynamic consent, the right not to know, cross-border data transfer, equity in reference data.
Assignment: Written position paper on a contested reporting scenario.
Admissions
Dates & registration
- Next intake
- Not yet confirmed
- Registration deadline
- Not yet published
Admissions can confirm upcoming dates, fees and delivery arrangements on enquiry. The programme duration is not a confirmed start date.
- Send your GU-G500 enquiry to Admissions.
- Describe your academic or professional background and preferred dates.
- Request confirmation of eligibility and the next registration steps.
An enquiry does not reserve a place or confirm admission.