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Human Genome Project: Triumph or failure?

It has been 20 years since the first draft of the human genome was unveiled. The ambitious project to sequence […]

Precision Oncology ONLINE: From preanalytical considerations to digital insights

Cancer is the world’s second biggest killer. In 2018, cancer claimed the lives of an estimated 9.6 million people. Needless […]

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 […]

BRCA2 c.9227G>T variant found to be pathogenic

Recent analysis published in Scientific Reports has concluded that c.9227G>T is a BRCA2 pathogenic variant. Variants of uncertain significance The […]

Structures of the heart reveal risk to cardiovascular disease

A recent study published in Nature has explored the fractal structure of the heart, revealing its influence on susceptibility to […]

Fast and Furious: A race to develop a vaccine

The development of a COVID-19 vaccine is critical to slow down the spread of the virus. However, the rapid race […]

COVID-19 linked to type 1 diabetes in children

A recent study, published in Diabetes Care, has reported a potential link between COVID-19 and the development of type 1 […]

MiR-93 as a potential novel target for breast cancer

A new study published in Cell Death and Disease has revealed the role of miR-93 in tumorigenesis and chemosensitivity. Breast […]

Susceptibility of the human embryo to SARS-CoV-2

Researchers at the University of Cambridge and the California Institute of Technology (Caltech) have identified genes active in early embryonic […]

Purifying selection in T cells

A recent publication in The New England Journal of Medicine has reported observations of reduced heteroplasmy in T cells – […]