A global collaboration led by scientists at the University of Oxford has discovered that genetic variants in a specific gene cause a rare neurodevelopmental disorder (NDD). NDD is a collective term for severe impairments in how the brain functions that impact learning, behaviour, speech, and movement. Read More
PacBio has announced that the University of Tartu, host of Estonia’s National Biobank, has chosen the company’s Revio HiFi sequencing system to sequence 10,000 whole human genomes and unlock new insights from its population health data. The announcement follows funding from the European Commission and… Read More
Exome sequencing correctly identified individuals with cancer predisposition syndromes who would have been missed by current screening guidelines, according to results from the Tapestry clinical trial. Data presented at the AACR Annual Meeting 2023 showed that among individuals who consented to whole-exome sequencing and were identified… Read More
A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. Context In 2018, the UK’s department of health announced an NHS Genomic Medicine… Read More
Genomic healthcare data is critical to identify disease risk, ancestry, traits and response to medicines and aids in the development of new targeted therapies - precision medicines. DDW’s Megan Thomas observes developments of accessibility in this sector and the potential impact. The origins One might argue that this all started… Read More
