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Polygenic background modifies penetrance of monogenic variants

Researchers have found that polygenic background can modify penetrance of disease in tier 1 genomic conditions. Monogenic variants Monogenic variants […]

Underdiagnosis of monogenic heart and vascular diseases

Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]

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 […]

Gene editing approach eliminates herpes simplex virus in vivo

A recent article, published in Nature Communications, has revealed a gene editing approach that can eliminate levels of latent herpes […]

Single-cell analysis reveals lung cancer therapy transcriptional changes

A study reported in Cell has shown through single-cell analysis that targeted lung cancer therapies result in transcriptional changes that […]

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 […]