Competency in genomic and proteomic resources is an essential skill for human disease genetic researchers. This module will give you first-hand experience of how the annotation of the human genome is achieved and understand the uses and limitations of a wide range of freely available online bioinformatic resources. As each resource is introduced, we will discuss what the resource provides and provide examples of when you might use the resource.

After taking this module you should be able to describe the major bioinformatics resources used to extract information about specific genes or proteins. More specifically you would be expected to know and understand:-

(1) How online biological and biomedical databases are used for gene/SNP mapping, coding region identification, data extraction and high-throughput analysis

(2) Ontologies and how ontologies are used to create gene and protein annotations

(3) The principles of gene regulation and their relevance to human disease and some of the common methods used to characterise proteins involved in gene regulation

(4) How a protein sequence relates to its function and how to analyse protein sequences and structure, including sequence alignment, structural and/or functional motif recognition, structure prediction and the evolution of proteins

As well as lectures and tutorials you will have several 2-3 hour computer practicals that will develop your ability to use online biological and biomedical databases efficiently. For example, you will learn how to use these resources to investigate the role of a gene in a specific disease or to identify the most likely variants which change the level of expression of a specific gene and present your findings.

Indicative lecture/practical topics (based on 2021/22 syllabus)

Eukaryotic gene regulation (4 online lectures)
	Methodologies used in studies of transcription regulation
	In silico analysis of SNV functionality
	Examining potential regulatory variants in the laboratory and in silico
	Introduction to online knowledge bases including:
	UniProt
		Ensembl
		Reactome and KEGG
		Gene Ontology
		NCBI, PubMed and OMIM
		Open Targets Platform
		IntAct
	
	Analysing genomic variants
	Analysing high-throughput datasets
	Introduction to protein domains and families
	Protein interaction network analysis