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Genomic technologies in common disease

All human beings develop medical conditions at some point in their lifetime – from high blood pressure, diabetes, heart disease or cancer. Whether we develop a specific disease is due …

The clinical applications of genomic technologies

The clinical applications of genomic technologies are vast and offer opportunities to improve healthcare across the breadth of medical specialities. We will explore some of these applications in more depth …

Mr and Mrs Peterson

Mr and Mrs Peterson discuss their options for genetic testing. Please note: Mr and Mrs Peterson are fictional characters invented for teaching purposes, and these clinical scenarios are designed to …

Pulling it all together: Week 3

You have now reached the end of week three. Well done! In this week’s final video, we will go over and summarise what we have learnt this week. We have …

The challenges of NGS technologies?

Genomic technologies have the potential to transform the way that we practice medicine, and ever faster, cheaper DNA sequencing offers increasing opportunities to prevent, diagnose and treat disease. However, genomic …

Reading reports

This video outlines different types of genetic reports received by clinicians, the different results they may give and what the implications of these are in clinical practice. What are the …

Did you know?

Our resident scientist tells you his favourite genomics facts.

Variants of uncertain significance

We have previously discussed the great extent of genetic variation found within each of our genomes. We have also discussed how some of that variation can lead to human disease. …

Looking at DNA: Sequencing technologies

DNA sequencing is the process of determining the order of the bases – adenine, guanine, cytosine and thymine – in a molecule of DNA. In the mid-70’s, a scientist called …

Looking at chromosomes

Karen Marks, senior clinical scientist in cytogenetics, discusses the impact that array CGH (Array Comparative Genomic Hybridization) has had on clinical practice. Karen describes the process of array CGH, where …