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The impact of incorrect reporting

In this video, Dr Angela George, Consultant in Oncogenetics, outlines the importance of exercising caution when reporting variants, discussing the challenge posed by variants of uncertain significance. Dr George describes …

Meet the Clinical Bioinformaticians

In this video we meet Clinical Bioinformaticians. While they do not see patients clinical bioinformaticians are an essential part of the interpretation team. Clinical bioinformaticians work to make genome data …

Patient stories: Having no answer

In this video, Claudia Beard, who we met in Week 1, explains the sobering reality of whole genome sequencing: that sometimes, despite the best efforts of clinicians and scientists, it …

Meet the Clinical Geneticists

In this video we meet Clinical Geneticists. We learn that they are qualified doctors who specialise in genetic conditions and have specialist understanding of both the clinical presentation of rare …

Meet the Genetic Counsellors

In this video we meet Genetic Counsellors, highly skilled health professionals who often see patients and their families when a genetic or genomic test is going to be, or has …

What will the future look like?

In this video our experts consider how things might look in the future – and you can read more about future possibilities at the links at the bottom of this …

Meet the Genomic Scientists

In this video we meet the scientists involved in genomic medicine. These scientists are vital to the selection of appropriate tests, testing itself, and interpreting results. Professor Sian Ellard, Professor …

Patient stories: the decision to share

As we have explored, the decision to share your data is a very personal one. In this video, we hear from a family taking part in the 100,000 Genomes Project …

Genetic testing by post

In the last few years, genetic testing has become more and more widely available outside of clinical and research settings. You could go online now and order a genetic testing …

The genomics team

In this video, course educator Dr Michelle Bishop gives an overview of the professionals involved in providing genomic diagnoses for patients. She explains that the genomics team is made up …

What happens inside the sequencer?

Once DNA has been extracted from the sample and prepared for sequencing, it will be entered into a next generation sequencing machine. But what happens inside the ‘black box’? How …

What is the reference genome?

The Human Genome Project was a step into the unknown – the first time we had attempted to determine the complete sequence of the human genome. As such, it presented …

COVID-19: rapid sequencing tests

As we’ve learned, genomic sequencing is a really important tool in the management of infectious disease outbreaks – including the current COVID-19 pandemic. In this film, professor Andrew Beggs from …