Blog articles

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
Fetus with DNA umbilical cord

‘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
Render of inflamed tissue in the body

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

Obesity: is it in our genes?

A complex and serious issue, obesity is the result of a combination of factors; but at least some our destiny lies in our genomes

Do our genes govern our fate?

A ‘faulty’ gene can result in different outcomes for different people – penetrance and expressivity influence the impact of our genetic code