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Rare, Well Done: Progress and challenges in rare genetic disorders

In the latest episode of the Genetics Society’s ‘Genetics Unzipped’ podcast, Geneticist Dr Kat Arney takes a look at the […]

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 […]

How to: name a gene

A recent article in Nature Genetics has set out the HUGO Gene Nomenclature Committee (HGNC) guidelines for human gene nomenclature.  […]

Whole-exome sequencing as a tool to detect inborn errors of metabolism

A study published in Nature Medicine has demonstrated the potential of whole-exome sequencing (WES) in detecting inborn errors of metabolism […]

Combined risk score predicts type 1 diabetes in children

An article published in Nature Medicine has demonstrated that a combined risk score improves type 1 diabetes (T1D) prediction in […]

Rebel Cell: Cancer, evolution and the science of life

Geneticist Dr Kat Arney brings you exclusive excerpts from her new book, Rebel Cell: Cancer, evolution and the science of […]

How will genetic technologies change reproductive decision-making?

An article published in the European Journal of Human Genetics has explored views on how new genetic technologies may change […]

The Persistent Y hypothesis

An Opinion paper released in Cell Press Reviews yesterday has provided an alternative hypothesis to why the Y chromosome still […]

Can the ‘common cold’ provide SARS-CoV-2 immunity?

A recent study suggests that infection from previous ‘common cold’ coronaviruses may provide some immunity to individuals exposed to SARS-CoV-2. The […]

Researchers unravel the role of G-quadruplexes in breast cancer

A team of researchers from the University of Cambridge have unravelled the complex landscape of G-quadruplexes and revealed their role […]