Inconsistency is rife throughout genetic medicine. Why? And what can we do about it?
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.