Blog articles
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Clinical interpretation: when is a variant a mutation?
Genome sequencing produces volumes of valuable data, but what are the challenges of interpretation that gives practitioners the answers they need?
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Genomics and the trouble with 'N of 1' trials
Randomised controlled trials are a rigorous way to identify cause and effect, but when it comes to rare genomic variants, connections can be hard to detect
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Destined for fitness? The genetic influences on exercise
Studies have identified genes that can influence a person's exercise performance and response, as well as their propensity for injury
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Precision in medicine in action
Genomics can help to target treatments for patients with cancer, rare inherited conditions, and infectious diseases
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Unexpected genomic findings: who wants to know?
A ground-breaking survey on health professionals, researchers and the public's attitudes towards genomics raises some important questions
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Gene therapy moves towards the mainstream
While still in their infancy, gene therapy techniques could hold great promise for patients with rare diseases
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Detecting Down syndrome with genomics
A major US study has shown that non-invasive prenatal testing performs better than invasive methods, but what about the UK?
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State of the nation: decoding the Icelandic genome
Genomic studies are focusing not just on key diseases, as with the 100,000 Genomes Project, but on whole population groups
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Can the genetic 'fat map' aid obesity prevention?
New research has discovered more than 90 genetic regions that influence obesity, tripling the number of previously known regions
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The 100,000 Genomes Project – sorting fact from fiction
As the first patients are set to be recruited to the main study this month: what are the truths and myths about this Project?
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Step closer to mainstream precision medicine
Rare disease diagnoses made for two of the families involved in the 100,000 Genomes Project
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Saving lives with genetics: newborn screening
While screening at birth targets very rare diseases, this early diagnosis can have huge benefits for the small number of affected babies