@article{article, title  = {{A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project}},

 publisher = {{Springer Science and Business Media LLC}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/207750 }},

 year = {{2022}},

 month = {{7}},

 author = {{Blakes AJM and Wai HA and Davies I and Moledina HE and Ruiz A and Thomas T and Bunyan D and Thomas NS and Burren CP and Greenhalgh L and Lees M et al}},

 doi = {{10.1186/s13073-022-01087-x}},

 volume = {{14}},

 journal = {{Genome Medicine}},

 issue = {{1}},

 note = {{Accessed on 2026/01/25}}}