All about mitochondria: Definition and disease

In the first of two blog posts about mitochondria, we explore what they are and how they can cause health conditions

The DDD study: Delivering diagnoses

Thousands of children have received results thanks to the DDD study – we look at some of the factors responsible for its success
A row of test tubes containing double helixes.

The 100,000 Genomes Project and the DDD study: A recap

We look at the background, aims and achievements of two of the most influential genomics studies of the last 15 years

The power of three: The importance of trios in diagnosing disease

Trio testing can help clinicians deliver a diagnosis at a much higher rate than testing just the patient alone, as research shows – but what is a ‘trio’?