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Clinical utility of exome sequencing in pregnancy loss

A recent study, published in Genetics in Medicine, has explored the clinical utility of exome sequencing for detecting monogenic aetiology […]

Myths and facts

Fake news and misinformation within medicine and healthcare is a serious problem. The advent and popularisation of social media has […]

Let’s talk about colon cancer

The recent passing of actor and role model, Chadwick Boseman, from colon cancer has shocked the nation. This shock seems […]

Polygenic background modifies penetrance of monogenic variants

Researchers have found that polygenic background can modify penetrance of disease in tier 1 genomic conditions. Monogenic variants Monogenic variants […]

Phenotypic refinement critical in exome interpretation

A recent study published in Genetics in Medicine explored the importance of refining phenotypic information for more effective exome data […]

Purifying selection in T cells

A recent publication in The New England Journal of Medicine has reported observations of reduced heteroplasmy in T cells – […]

DNA Today podcast: Infertility series wrap up

DNA Today has just wrapped up their infertility series which started in April, coinciding with infertility awareness week. Over the […]

Understanding the challenges for the responsible introduction of new reproductive technologies

A new study has contributed to an increased understanding of the prerequisites and challenges for the responsible introduction of new […]

Patient Perspectives: Maddie Stoodley – Gaucher’s Association Ambassador and UK Board Member

Maddie Stoodley is a rare disease patient and Gaucher’s Association Ambassador and UK board member. Stoodley was diagnosed at 16 […]

A, C, T to Glossary

Numbers The 1000 Genomes Project: The 1,000 Genome Project (1KGP) launched in January 2008 with the aim of generating the […]