Evaluation of a 5-Tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: Inter-reviewer variability and promotion of minimum reporting guidelines

Logan C. Walker, Phillip J. Whiley, Claude Houdayer, Thomas V O Hansen, Ana Vega, Marta Santamarina, Ana Blanco, Laura Fachal, Melissa C. Southey, Alan Lafferty, Mara Colombo, Giovanna De Vecchi, Paolo Radice, Amanda B. Spurdle

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Medicine & Life Sciences