European Journal of Human Genetics - Systematic mapping of rare genetic disease studies using UK primary care electronic health records

The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...

Complex neurodegenerative conditions have occasionally been associated with copy-number gains. Using microarray and genome sequencing on DNA samples from eleven individuals from nine unrelated families, we show that copy-number gains at 16p13.3 cause a severe, recognizable disorder characterized by …

Large-scale data sharing is indispensable for advancing human genetics and genomics (HGG) research and medicine. The willingness of study participants and researchers to share data has been the…

Abstract. The Ensembl project (https://www.ensembl.org) is a public and open resource providing access to genomes, annotations, high-quality tools, and met

Oxford’s OpenSAFELY team wins the prestigious Queen Elizabeth Prize for revolutionising secure NHS data research, protecting patient privacy while unlocking life-saving health insights.

BRAIN-MAGNET, a convolutional neural network trained on 148,198 functionally tested non-coding regulatory elements, predicts enhancer activity directly from DNA sequence and identifies nucleotides ess...

BRAIN-MAGNET, a convolutional neural network trained on 148,198 functionally tested non-coding regulatory elements, predicts enhancer activity directly from DNA sequence and identifies nucleotides ess...