Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing (FutureLearn)

Invasive Down syndrome tests in pregnancy have made way for the evaluation of fetal DNA in maternal blood. And instead of laborious gene-by-gene targeted sequencing, we can now sequence all of our genes in parallel in a single experiment.

Understand and apply genomic sequencing technologies

This postgraduate-level course, in combination with Genomic Technologies in Clinical Diagnostics: Molecular Techniques, will help you understand these new and established genetic technologies, and their application to clinical practice.

This course focuses on genomic sequencing. By the end, you will be able to:

- demonstrate an understanding of the molecular principles behind next generation sequencing (NGS) technologies;

- identify appropriate applications of these technologies to clinical scenarios within both diagnostic and research settings;

- and evaluate alternative applications of next generation sequencing technologies outside of DNA sequencing, such as RNA seq and ChIP-seq.

What topics will you cover?

- The changing landscape of genomics: From Sanger sequencing to Next Generation Sequencing

- Overview of Next Generation Sequencing platforms and their methodology

- Targeted resequencing

- Alignment, variant calling and annotation

- Other applications of Next Generation Sequencing beyond DNA sequencing

- Next Generation Sequencing in gene discovery

- Gene discovery in the research and diagnostics

- Next Generation Sequencing in clinical diagnostics: Single gene, gene panel sequencing, exome and genome sequencing

- How to design a gene panel

- The 100 000 Genomes project

- The transforming NHS: Genomics in mainstream practice

What will you achieve?

By the end of the course, you'll be able to...

- Demonstrate an understanding of the molecular principles underlying Next Generation Sequencing (NGS) technologies

- Identify appropriate applications of these technologies to clinical scenarios within both the diagnostic and research settings

- Design a panel of genes for analysis using Next Generation Sequencing technologies applicable to a specific clinical phenotype