Every Friday we post a blog on a topic related to genetic medicine. You can find our new posts on Twitter under the hashtag
#TGMIFriday. You can also sign up to get our blog posts direct to your email inbox. Please contact us if you have any suggestions for topics we should address.
Catch up with some #TGMIFriday popular blog posts discussing the challenges and opportunities in genetic medicine today.
Standardisation of processes and education of end users are key to making genetic medicine work, as TGMI team member Shazia Mahamdallie explains in this interview.
There is a wealth of information that could inform variant interpretation. How can we make good use of it?
We used to consider genetic variants guilty until proven innocent, but now we must treat them as innocent unless proven guilty. Find out why in today's post.
Disease-causing variants are rare, but most rare variants do not cause disease. This fundamental insight has profound impact on genetic testing.
Caroline Wright is Senior Lecturer in Genomics at the University of Exeter. In this interview, she talks about what still needs to be done to make genetic medicine work.
Software validation of medical genetics tests that the software fulfils the needs of its users. It requires a source of proven true data to use as benchmark.
The TGMI connects with many people and organisations to form a broad community. In this post we look at what kind of community the TGMI is, and in which way you are a part of it.
Simple processes that allow rapid publication of useful research outputs are essential for genetic medicine to work. Read about a new publishing platform making this happen.
Medical software has to be accurate and reliable. How is this achieved? Verification is a key step, find out why in today's post
Graeme Black is Professor of Genetics and Ophthalmology at the University of Manchester. In this interview he talks about his reasons for joining the TGMI, and his views on the future of genetic medicine.
This week we show why studying rare genetic conditions is hugely valuable and endlessly rewarding.
The TGMI introduce the ICR96 exon CNV validation series, a benchmarking set for a tricky but vitally important mutation type
OMIM celebrated the 50th anniversary of the first publication of Victor McKusick's visionary catalog of Mendelian phenotypes and (later) genotypes.
TGMI team member Anthony Renwick talks about his work in genetics, and shares his views on the role of the TGMI in genetic meidicine.
Mainstreaming genetic testing in children with overgrowth and intellectual disability (OGID) would be a powerful and practical first-line tool in the diagnosis and management of OGID. Find out why in today's post
A promising gene therapy will no longer be marketed, despite its effectiveness. Why? And how can we develop the appropriate processes needed to deliver gene therapy.
Sharing individual genome data with research participants, doctors and researchers has logistical, ethical and legal implications. Read more in today's post
A brief update from the TGMI and a chance to catch up on some of our most popular blog posts from earlier in the year.
Elspeth Bruford talks about her work at the HUGO Gene Nomenclature Committee (HGNC) and why its aims are so closely aligned with the TGMI.