module specification

BM7121 - Genetic and Genomic Informatics (2024/25)

Module specification Module approved to run in 2024/25
Module title Genetic and Genomic Informatics
Module level Masters (07)
Credit rating for module 20
School School of Human Sciences
Total study hours 200
39 hours Scheduled learning & teaching activities
137 hours Guided independent study
24 hours Assessment Preparation / Delivery
Assessment components
Type Weighting Qualifying mark Description
Coursework 50%   Data analysis Report 1 (1500 words)
Coursework 50%   Data analysis Report 2 (1500 words)
Running in 2024/25

(Please note that module timeslots are subject to change)
Period Campus Day Time Module Leader
Spring semester North Wednesday Afternoon

Module summary

This module applies in silico approaches to explore the relationship between genotype and phenotype in the context of human disease and health. It includes an analysis of the influence of genetic variation in human populations to the penetrance of disease phenotype and to responses to environment, lifestyle and therapy.  It runs in the Spring semester and is assessed by two pieces of coursework and a presentation.  There are no pre-requisites other than satisfaction of general entry requirements.

Prior learning requirements


Module aims



Genome structure; physical and molecular approaches to gene mapping;
Genome databases and software;
Genome diversity, single nucleotide polymorphisms, haplotype mapping, functional analysis of polymorphisms using relevant databases and software;
Linkage analysis; mapping of complex traits;
Functional genomics – expression profiling, proteomics, metabolomics; databases and software;
Interaction between genome and environment – pharmacogenomics, foetal programming and nutrition, behaviour.



Balance of independent study and scheduled teaching activity

Students will be directed in their learning through a programme of lectures, and tutorials / IT sessions focussing on real-world case studies and problems, and an oral presentation.  In addition there will be directed learning in preparation for and / or reflection on, lectures, tutorials and an oral presentation; directed learning for preparation for two pieces of coursework; and self-directed learning.   Students will develop their knowledge and understanding of the subject, IT skills and their ability to apply their knowledge to real-world problems.

Learning and teaching



Learning outcomes

On successful completion of this module students will be able to:
1. Show a thorough understanding of the structure of the human genome and genome variation between individuals;
2. Demonstrate a comprehensive ability to extract, analyse and accurately interpret data on gene and genome variation from primary databases;
3. Demonstrate a thorough understanding of methodology for mapping genes to complex traits and demonstrate a high level of competency in the utilisation of selected genomic and related databases and software to extract, analyse and present data that explores the relationship between genotype and phenotype in health and disease;