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Additional file 2: Figure S2. of A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

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posted on 2016-02-02, 05:00 authored by Regis James, Ian Campbell, Edward Chen, Philip Boone, Mitchell Rao, Matthew Bainbridge, James Lupski, Yaping Yang, Christine Eng, Jennifer Posey, Chad Shaw
Performance of global map visual projection. Semantic space signal-to-noise ratios of known disease classes are recovered in MDS visual space. Signal is computed as the mean semantic similarity between all pairs of diseases within a known (A) HDN or (B) OMIM Phenotypic Series class (gray bars). Noise is computed as the mean similarity between all pairs of diseases in each class C and those not in C (black line). Scores are relativized to the highest within-class average. Signal-to-noise ratios were consistently above one, indicating retention of pre-MDS semantic space relationships in post-MDS visual space. (PDF 259 kb)


National Institute of Neurological Disorders and Stroke