Course: Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations

Hear from the educators of this course how they envision the future of genomic medicine. Despite improvements, the correlation between variants and clinical features remains crucial for patient management. Training …

In clinical practice, dealing with variants of unknown significance (VUS) involves several steps. First, the clinician assesses how well the gene associated with the variant fits with the patient’s symptoms. …

Now that you have learnt how to use DECIPHER, watch Dr Julia Foreman interviewing Prof Helen Firth from Cambridge University Hospitals about the breakthrough impact of DECIPHER in the clinical …

Learn from Prof Helen Firth how she feels about the impact of clinical geneticists on patients’ health and how cutting-edge technologies have benefited the clinical practice. While this is the …

In this video, Prof Helen Firth spoke about determining if a variant has been observed previously and the importance of context. If the variant has been observed in healthy individuals …

In this video, Dr Julia Foreman and Prof Helen Firth, a consultant clinical geneticist, discuss the importance of interpreting genomic variants for patient diagnosis. Prof Firth explains her research aims …

In this video, Prof Aimé Lumaka from the University of Kinshasa, Democratic Republic of the Congo, discusses the future of genomic medicine in Africa, emphasising its collaborative nature and multidisciplinary …

In this video, Dr Claudia Gonzaga-Jauregui from the Universidad Nacional Autónoma de Mexico (UNAM) narrates how information from the Puerto Rican population allowed for the discovery of the gene responsible …

In the example in this video, Erin Riggs from Geisinger shows you how to use the UCSC Genome Browser to analyse a de novo deletion on chromosome 9q in a …

In this video, you will watch an example of how to use the DECIPHER platform to analyze a five-year-old female patient with a de novo heterozygous deletion on chromosome 11. …

In this video, Dr Jenny Lord from the University of Sheffield discusses interpreting variations in the non-coding regions of the genome. While protein-coding genes constitute only 1-2% of the genome, …

In this short lecture, Dr Kailtin Samocha, from the Massachusetts General Hospital, United States of America, discusses the significance of population data in variant interpretation and classification within genomics. By …

In the final week of our course, we will focus on real-world case studies and we will also explore the future of genomic variant classification and interpretation, including how artificial …

What is a variant and what are the types of genetic variations? Genetic variants are differences in the DNA sequences of individuals within a population. They can be germline or …

In this video, the Division of Human Genetics (University of the Witwatersrand) shares some facts about patient advocacy and why the work these groups do is an important part of …