@misc{indiciae7da112667e53, title = {Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders}, author = {Ellingford, J. M. and Thomas, H. B. and Rowlands, C. and Arno, G. and Beaman, G. and Gomes-Silva, B. and Campbell, C. and Gossan, N. and Hardcastle, C. and Webb, K. and O'Callaghan, C. and Hirst, R. A. and Ramsden, S. and Jones, E. and Clayton-Smith, J. and Webster, A. R. and Genomics England Research Consortium, and O'Keefe, R. T. and Newman, W. G. and Black, G. C.}, year = {2019}, doi = {10.1101/781088}, url = {https://www.biorxiv.org/content/10.1101/781088v1}, note = {Source identifier: 10.1101/781088} }