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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. […]

Indigenous Genomic Data Needed for Equitable Expanded Carrier Screening:

Pre-conception Expanded Carrier Screening is a technology that uses whole genome sequencing to screen prospective parents as potential carriers of […]

Clinical utility of exome sequencing in pregnancy loss

A recent study, published in Genetics in Medicine, has explored the clinical utility of exome sequencing for detecting monogenic aetiology […]

African genomics needed for genetic medicine

As part of the 20th anniversary of Nature Reviews Genetics, Professor Ambroise Wonkam from the University of Cape Town has […]

Just one base at a time

The advancements in base editing, a new genome editing approach, have generated a lot of excitement amongst scientists in recent […]