Course: Whole Genome Sequencing: Decoding the Language of Life and Health

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

In this video you will hear about three specific cases and areas of medicine where whole genome sequencing has helped patients. Rare Disease Dr Richard Scott explains that the 100,000 …

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 …

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 …

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 …

In this video we meet Dr Richard Scott, an expert in rare disease at Great Ormond Street Hospital in London, and Claudia Beard, whose son Trent has an undiagnosed rare …