Blog articles

The brain, the gut and the genome
We explore the link between our mental and physical health by looking at results from a recent genome-wide association study

Haplotypes: a cut-out-and-keep guide
Although ‘haplo' means 'simple', the science can be anything but. Find out what’s hap-pening with haplotypes in our guide

‘New’ de novo variants linked to developmental disorders
How do gene variants affect our health? We look at a recent study that has newly identified 28 genes associated with developmental disorders

Genomics first: identifying inflammatory disease
Scientists have discovered a new rare and deadly inflammatory disease in men, but how did genomics lead them to it?

Genomic approach predicts risk of oesophageal cancer
Can we use genomics to accurately predict the development of cancer in those with precursor conditions? We look at newly published results from a 15-year study to find out

Breakthrough in the battle against neurodegenerative disease
New genomic research could shed light on the cause of two life-limiting neurodegenerative conditions and provide targets for potential therapies and treatments

What are copy number variants?
Everyone has unique variants in their genome - and many are harmless - but which types can have an impact on our health and how do they occur?

How NHS research is finding new ‘rare disease genes’
As whole genome sequencing becomes more accessible, our understanding of rare disease is advancing at speed. We look at the latest findings from two NHS studies.

Rapid exome sequencing: a look inside the lab
Clinical scientist Dr Julia Baptista explains what – and who – is involved when the NHS sequences the DNA from all an individual’s 20,000 protein-coding genes

Direct-to-consumer testing: a clinician's guide
In the second of our articles this week on DTC genetic tests, guest author Dr Rachel Horton explains some of the common pitfalls and the key points clinicians need to know

Consumer genetic testing: expectation and reality
In the first of two articles on the subject, we explore new research that shines a light on the pitfalls of our new favourite pastime
News articles

Facilitating genomic testing: new courses and resources
Are you accessing genomic testing for the first time? Try our new collection of online learning designed to prepare health professionals offering a genomic test to patients