It has been 20 years since the first draft of the human genome was unveiled. The ambitious project to sequence […]
Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]
Cancer is the world’s second biggest killer. In 2018, cancer claimed the lives of an estimated 9.6 million people. Needless […]
A recent study published in Genetics in Medicine explored the importance of refining phenotypic information for more effective exome data […]
A study reported in Cell has shown through single-cell analysis that targeted lung cancer therapies result in transcriptional changes that […]
Recent analysis published in Scientific Reports has concluded that c.9227G>T is a BRCA2 pathogenic variant. Variants of uncertain significance The […]
Researchers at Tongji University, Shanghai, have developed a large-scale curated database that integrates tumour microenvironment (TME) single-cell transcriptomic data, known […]
Researchers at the University of Cambridge and the California Institute of Technology (Caltech) have identified genes active in early embryonic […]
A recent publication in The New England Journal of Medicine has reported observations of reduced heteroplasmy in T cells – […]
A recent article published in Cell Death Discovery has explored digestive symptoms of COVID-19 and the potentially pathogenic route of […]
