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The University of Southampton

MEDI6239 Interpretation of Genomics in Clinical Practice

Module Overview

This module covers interpretation of genomic data in a clinical context, providing information on the many information sources that are integrated for meaningful interpretation.

Aims and Objectives

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

  • Integrate information from clinical records and genomic data.
  • Critically appraise and apply information from literature, databases and predictive tools for variant classification
  • Generate genomic interpretation reports providing adequate information to healthcare professional recipients
  • Apply relevant guidelines for variant interpretation.


Relevant information required at referral for genetic testing to allow meaningful genomic interpretation. Identification and evaluation of appropriate literature sources to inform data interpretation. Standard evidence frameworks for evidence synthesis available for variant interpretation. Best practice guidelines for variant reporting. Application of population genomic resources. In silico predictive tools to support variant interpretation, and their limitations. Details of the multidisciplinary approach to variant interpretation in clinical practice.

Learning and Teaching

Teaching and learning methods

The module will comprise two blocks of intensive on-site teaching, each followed by approximately two weeks of independent study. A variety of learning and teaching methods will be adopted to promote a wide range of skills and meet the differing learning styles of the group. The on-site teaching will include seminars, practical demonstrations, discussions and exercises surrounding interpretation of data and clinical scenarios, and specialist lectures given by a range of academic and health care professionals. This will ensure a breadth and depth of perspective, giving a good balance between background theories and principles and practical experience. Off-site independent learning will take place on the virtual learning environment hosted by the UoS.

Independent Study165
Total study time200


Assessment Strategy

The assessment for the module provides you with the opportunity to demonstrate achievement of the learning outcomes. In addition to the summative assessments, during the course of the module there will be opportunities to obtain feedback in the form of unassessed, formative activities.


Workshop activities


MethodPercentage contribution
Oral presentation and a written assignment  (2500 words) 100%


MethodPercentage contribution
Written assignment  (2500 words) 100%

Repeat Information

Repeat type: Internal & External

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