A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project oleh Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord