Researchers have developed a novel statistical test to interpret the pathogenicity of rare variants and accurately distinguish between benign and […]
A recent study, published in the Journal of Human Genetics, has analysed and identified a novel circRNA in pancreatic cancer […]
A recent trend in large-scale association studies is transcriptome-wide association study (TWAS), which aggregates genomic information into functionally relevant units […]
Researchers have evaluated the ability of the oral, gut and skin (palm and forehead) microbiomes in predicting age in adults. […]
In the latest episode of the Genetics Society’s ‘Genetics Unzipped’ podcast, Geneticist Dr Kat Arney takes a look at the […]
A recent study published in Genetics in Medicine explored the importance of refining phenotypic information for more effective exome data […]
A recent article in Nature Genetics has set out the HUGO Gene Nomenclature Committee (HGNC) guidelines for human gene nomenclature. […]
A study published in Nature Medicine has demonstrated the potential of whole-exome sequencing (WES) in detecting inborn errors of metabolism […]
An article published in Nature Medicine has demonstrated that a combined risk score improves type 1 diabetes (T1D) prediction in […]
Geneticist Dr Kat Arney brings you exclusive excerpts from her new book, Rebel Cell: Cancer, evolution and the science of […]