Childhood-Onset Psychosis (COP) is a rare and severe variant of schizophrenia, with a UK incidence of ~ 1 in 500,000. This paper presents the largest UK case series of COP, comprising 39 famili...

Nature Reviews Genetics, Published online: 28 March 2025; doi:10.1038/s41576-025-00828-zAdvances in long-read sequencing are driving the implementation of these technologies for transcriptome profiling. The authors provide a comprehensive guide to long-read RNA sequencing, including experimental and computational tools, current applications, challenges and opportunities.

Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...

As the global landscape of genomics continues to expand, evaluation is needed to inform the design of current and future genomics initiatives. Six key priorities emerged from reviewing and synthesizin...

We identified actionable variants in research cohort volunteers and implemented the return of results to participants. We detail this process, from exome sequencing through pipeline development, varia...