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Neuritogenesis genes confer risk for cerebral palsy

Researchers using whole-exome sequencing have identified that mutations that disrupt neuritogenesis may confer risk for cerebral palsy. Cerebral palsy Cerebral […]

Genomic Epidemiology: The Modern-day Hunt for Malicious Microbes

In this new age of genomic epidemiology, so-called “Microbe Hunters” are combining whole genome sequencing technology with epidemiological data. This […]

HIV: origins, treatment and the continued stigma

The first person to be cured of HIV, Timothy Ray Brown, died last week from a recurrence of leukaemia. His […]

A modern Egyptian: the first comprehensive Egyptian reference genome

The true value of genomics can only be unravelled with true population-scale sequencing. Understanding genomic variation across populations will help […]

Human microbiome predicts age

Researchers have evaluated the ability of the oral, gut and skin (palm and forehead) microbiomes in predicting age in adults. […]

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 […]

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 […]

Combined risk score predicts type 1 diabetes in children

An article published in Nature Medicine has demonstrated that a combined risk score improves type 1 diabetes (T1D) prediction in […]

Progress in the GenOMICC COVID-19 study

Genomics England Chief Scientist, Professor Sir Mark Caulfield, recently joined BBC Radio 4 to discuss the progress of the GenOMICC […]