Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]
A study published in Nature has explored the role of age-induced accumulation of methylmalonic acid in cancer progression. Disease of […]
Recent analysis published in Scientific Reports has concluded that c.9227G>T is a BRCA2 pathogenic variant. Variants of uncertain significance The […]
Researchers at the University of Cambridge and the California Institute of Technology (Caltech) have identified genes active in early embryonic […]
Autism spectrum disorder (ASD) affects one in 54 children in the US and is associated with a heritability between 50-90%. […]
Large-scale BRCA testing within the general population and across multiple healthcare systems could prevent millions of breast and ovarian cancer […]
The current COVID-19 pandemic has revealed that increased age and the presence of co-existing health conditions, such as cancer, cardiovascular, […]
A study from the Murdoch Children’s Research Institute (MCRI) has found a genetic cause for a rare disease that causes […]
Tackling Disease-Related Repeat Expansion Analysis – Marzia Rossato What is the Dark Genome? The dark genome refers to parts of […]
The ability to sequence a patient’s genome can be an invaluable tool in healthcare, especially as we move towards more […]
