Monthly Archives: March 2017



Implementing fixed, universally-used gene symbols is a central aim of the TGMI. Find out why this is so important in today's blog.

Stabilising gene symbols


Read about the vital statistically rigourous methods the Deciphering Developmental Disorders use to determine which new mutations cause disease.

Which new mutations cause disease?



Elise Ruark talks about her role as statistician and bioinformatician on the TGMI team, and the importance of open resources for the future of genetic medicine.

The TGMI Team – Elise Ruark


Is it true that 80% of rare diseases are genetic? We tried to track down the origin of this oft-used statement. It was a surprising journey.

How many rare diseases are genetic?