Information resources in clinical genetics

Published on August 31, 2025   20 min

Other Talks in the Series: Introduction to Human Genetics and Genomics

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0:00
Hello. My name is Dr. Robert Legg. I'm a clinical genetics trainee at the University of Cambridge Hospitals NHS Foundation Trust. I'm going to give a talk to you today on information resources in clinical genetics.
0:16
Now, this lecture will be somewhat light on content, but it will be helpful in your future work and endeavours in medical genetics. The key thing is to go from here and experiment with the resources that we're going to discuss after you have watched this lecture, become familiar with what they can provide you, what they can't provide you, and which tools are most appropriate to the questions you're trying to ask. I'm going to provide a list of commonly used resources in medical genetics and I'm going to give a brief explanation and demonstration of how to use these resources.
0:48
It should be noted that the resources I have listed are predominantly UK- and European-focused with some from the United States and based in English on account of my work in clinical genetics in the UK. My apologies to those accessing these resources in other areas of the world. If there are any resources I have overlooked, I'm always interested to hear about them. As you might expect, all of these resources and links are correct at the time that I have made this presentation, and they may change over time in appearance, access and functionality. The nature of this presentation means that I cannot give you a live demonstration, but I will try to guide you to the relevant parts of each resource. However, a key aspect is experimentation, and it will be equally valuable for you to explore these resources yourselves.
1:34
This is the master reference slide of resources that we will be discussing in this talk. We'll break things down further, but we can always go back to this slide. First and foremost, don't forget Google. As with many search engines, the quality of your results will depend slightly on your search terms and parameters, but it may lead you to resources that you might otherwise have not have found, likewise for GPTs and other AI resources. The first category of resources we will look at

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