RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.
Chang L
European Journal of Human Genetics
DOI: https://doi.org/10.1038/s41431-025-01964-0
Research in this community will focus on the development, refinement, validation and application of bioinformatics approaches to interrogate data in the NGRL and maximise the ability for clinically relevant discovery. It will facilitate the open exchange and sharing of computational ideas and methods, including powerful machine learning approaches. It will also ensure best practices in clinical interpretation analysis, work with disease groups to provide access to world-leading statistical and computational data analysis expertise; and provide training and support a world-leading workforce in support of genomic-based healthcare.
Domain leads
Professor Chris Yau
University of Oxford
Dr David Morris
King's College London
Dr Dominik Glodzik
Harvard Medical School