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Novel circRNA identified as a potential biomarker for pancreatic cancer

A recent study, published in the Journal of Human Genetics, has analysed and identified a novel circRNA in pancreatic cancer […]

TWAS: Transcriptome-wide association study

A recent trend in large-scale association studies is transcriptome-wide association study (TWAS), which aggregates genomic information into functionally relevant units […]

Human microbiome predicts age

Researchers have evaluated the ability of the oral, gut and skin (palm and forehead) microbiomes in predicting age in adults. […]

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 […]