This course will provide an overview of the clinical applications of genomic approaches to human disorders, particularly in relation to clinical genetics, discussing the methods and capabilities of the new technologies. Tuition and hands-on experience in data analysis will be provided, including the interpretation of next generation sequencing data.

This course is made up of lectures and tutorials in semester 2.

Students will generate two reports, worth 30% and 70% of the marks, respectively:

1. Students will analyse and interpret clinical DNA sequencing variant data and then generate a critical report of 500 words (maximum), incorporating relevant data from publications and from online prediction algorithms and databases (30% of course mark). [ILOs 3&4]

2. Students will also write a discussion (containing 1500 words maximum) of important scientific issues in relation to current DNA sequencing technologies, in the context of relevant literature relating to the human genome, differing DNA sequencing strategies and genomic data analysis (70% of course mark). [ILOs 1&2]

The aims of this course are to facilitate an understanding of the following topics:

■ Structure and function of the human genome

■ Diagnostic analysis of the human genome (and exome and genome sequencing)

■ Clinical bioinformatics - making sense of the data, with practical hands-on experience in data analysis and evaluating the pathogenicity of single nucleotide variants (SNVs).

■ Terminology

■ Ethical aspects of whole genome analysis (including incidental findings)

■ Precision medicine, personalised medicine and pharmacogenomics.

By the end of this course students will be able to:

Structure and function of the human genome:

1. Critically appraise what is known and what is not regarding the structure of the genome and the control of gene expression.

Diagnostic analysis of the human genome:

2. Critically evaluate the purpose, capabilities and limitations of DNA sequencing strategies and technologies

Bioinformatics - making sense of the data:

3. Critically discuss approaches to the analysis of genomic variants, including the use of online prediction algorithms, online databases and software tools.

Precision medicine & pharmacogenomics:

4. Critically discuss examples of the consequences of genomic variants with regard to drug responses and adverse effects

Students must submit at least 75% by weight of the components (including examinations) of the course's summative assessment.