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AI has been used to rapidly diagnose critically ill patients with rare genetic diseases

Recently, researchers used Fabric GEM, an artificial intelligence algorithm, to detect disease causing variants in newborns and rare disease patients […]

Effect of WGS on clinical management in acutely ill infants

Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants. However, before wide-spread adoption and implementation, […]

Does genomics hold the key for African cancer care?

Researchers recently explored whether the genetic landscape of tumours could be captured through blood collection in African women with breast […]

World of Genomics: Japan

In the latest World of Genomics entry, we shine a spotlight on the land of the rising sun – Japan. […]

The promise of glioma detection using blood plasma and urine samples

Researchers have developed two novel methods to detect a brain tumour (glioma) using cell-free DNA in the blood plasma and […]

Resolving the driving forces behind tumour heterogeneity

Researchers have recently developed an in vitro model that can distinguish between the genetic, epigenetic and stochastic factors underlying tumour […]

A substantial genetic contributor to loss of Y chromosome and type 2 diabetes

Researchers have identified loss-of-function GIGYF1 variants that contribute more to the risk of loss of Y chromosome and type 2 […]

WES uncovers mutations for rare paediatric diseases

Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases […]

Updates on the UK Biobank for 2021 and Beyond – by Mark Effingham

Mark Effingham (Deputy CEO, UK Biobank) joined us at The Festival of Genomics and Biodata 2021 to give us an […]

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 […]