A recent study by Samantha Malka and colleagues used data from the 100,000 Genomes Project to find genetic causes of a rare eye condition in South Asian and African communities.
Researchers have performed the largest genetic analysis of colorectal cancer to date, identifying new driver genes and potential drug targets for treatment.
Recent research has discovered a common cause for neurodevelopmental disorders in the non-coding genome, providing a diagnosis to hundreds of people around the world and potentially thousands more.
Whole genome sequencing could improve our ability to detect and treat childhood cancers. New research investigates the real-time impact of routine whole genome sequencing for cancer in the NHS.
This blog talks through the data quality and standards in digital pathology for machine learning research, describing how whole slide images are being created for the cancer participants.