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Boston conference seeded thousands of COVID-19 infections

We reported back in March 2020 about a Biogen conference held in Boston where three attendees tested positive for COVID-19. […]

Deep learning in melanoma mutational screening

A recent study has explored the role of deep learning as a tool for rapid mutational screening in melanoma. Detecting […]

SARS-CoV-2 deletion impacts severity of infection

Researchers have found that a deletion in the SARS-CoV-2 genome, which has been detected in Singapore and other countries, is […]

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 […]

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. […]

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 […]

Methylmalonic acid represents a link between ageing and cancer

A study published in Nature has explored the role of age-induced accumulation of methylmalonic acid in cancer progression. Disease of […]

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 […]