Clinically-validated and cost-effective solutions to healthcare professionals
We often think of Next-generation sequencing (NGS) as a powerful technology that can analyse millions of DNA variants simultaneously, making it widely used for genetic
Hereditary cardiomyopathies (CMPs) are diseases related to impaired structure and function of the heart muscles and cavities, which greatly contribute to cardiovascular mortality. These conditions
Rare diseases collectively affect 3.5–5.9% of the global population, thus emphasising their public health significance. Diagnosing rare diseases in adults remains more challenging than in
CHEK2 is a tumour-suppressing gene which encodes for the CHK2 protein, a serine/threonine kinase which plays a major role in several cell signalling pathways, such as
Breast cancer (BC) is the most frequent type of cancer in women, with approximately 2.2 million new cases diagnosed each year, making it the fourth
Breast cancer is the leading cause of cancer-related deaths amongst women worldwide. One of the critical challenges in treating this disease is the presence of
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