Recently, researchers used Fabric GEM, an artificial intelligence algorithm, to detect disease causing variants in newborns and rare disease patients […]
Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants. However, before wide-spread adoption and implementation, […]
Researchers recently explored whether the genetic landscape of tumours could be captured through blood collection in African women with breast […]
In the latest World of Genomics entry, we shine a spotlight on the land of the rising sun – Japan. […]
Researchers have developed two novel methods to detect a brain tumour (glioma) using cell-free DNA in the blood plasma and […]
Researchers have recently developed an in vitro model that can distinguish between the genetic, epigenetic and stochastic factors underlying tumour […]
Researchers have identified loss-of-function GIGYF1 variants that contribute more to the risk of loss of Y chromosome and type 2 […]
Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases […]
Mark Effingham (Deputy CEO, UK Biobank) joined us at The Festival of Genomics and Biodata 2021 to give us an […]
Researchers using whole-exome sequencing have identified that mutations that disrupt neuritogenesis may confer risk for cerebral palsy. Cerebral palsy Cerebral […]
