Variant interpretation

Previously: Bioinformatics, interpretation, and data quality assurance in genome analysis. About the module name changes

About this module

This module will equip students with the understanding and skills required to carry out genomic variant classification in a clinical setting. The module will guide students through the process of clinical variant interpretation and the basics of relevant bioinformatics pipelines. It will consider the fundamental principles of variant classification including the variety of evidence used (including population, phenotype, inheritance, predictive and functional data). There will be a focus on how this process is carried out in a clinical setting including an exploration of relevant guidelines, multidisciplinary team working and interpreting genomic variant reports

15 credits · Module Leads: Dr Tim Hearn (University of Cambridge) and Dr Kenneth Langlands (University of Cambridge)

Before the module

What you will study

• genomic data flow from the patient, through to the laboratory, to the clinician and then back to patient.
• bioinformatic pipelines including assessment of data quality, alignment, variant identification and annotation processes
• the use and limitations of population databases and case control studies in variant classification
• approaches for assessing the functional effect of variants
• relevant computational and predictive data sources and how to use these in variant classification
• the role of data gathered by the clinical team in variant classifications, i.e. good phenotyping and inheritance data
• use of multiple database sources and clinical literature in variant classification
• principles of integration of laboratory and clinical information, and location of best practice guidelines for indicating the clinical significance of results (for example, American College of Medical Genetic and Genomics (ACMG), and UK guidelines for bioinformatics and variant classification)
• the multidisciplinary team process, including MDT meetings, in clinical variant interpretation
• ethical and legal issues, including:
  • Patient data security in the various aspects of variant identification
  • Variation in population data availability for different ethnicities and the impact on classification for patients
  • Changes in variant classification over time and how this can impact patient care

Learning objectives

By the end of this module you will be able to:

• interpret evidence (including population, phenotype, inheritance, predictive and functional data) used for variant classification.
• apply relevant national and international guidelines to classify genomic variants.
• appraise the strengths and limitations of variant interpretation in a multidisciplinary team (MDT) setting.
• evaluate a range of genomic variant reports in human disease.

Teaching

26–30 April 2027

School of Clinical Medicine, Hills Road, Cambridge CB2 0QQ

Dates follow the 2026–27 handbook. Check your course communications for timetable updates.

Learning objectives follow the 2026–27 curriculum, including programme-team updates.