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
Having successfully completed this module you will be able to:
- Critically appraise and apply information from literature, databases and predictive tools for variant classification
- Apply relevant guidelines for variant interpretation.
- Generate genomic interpretation reports providing adequate information to healthcare professional recipients
- Integrate information from clinical records and genomic data.
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.
|Total study time||200|
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.
This is how we’ll give you feedback as you are learning. It is not a formal test or exam.Workshop activities
This is how we’ll formally assess what you have learned in this module.
|Oral presentation and a written assignment||100%|
This is how we’ll assess you if you don’t meet the criteria to pass this module.
Repeat type: Internal & External