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Additional file 6: Table S1. of A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

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journal contribution
posted on 02.02.2016 by Regis James, Ian Campbell, Edward Chen, Philip Boone, Mitchell Rao, Matthew Bainbridge, James Lupski, Yaping Yang, Christine Eng, Jennifer Posey, Chad Shaw
Tabular summary of comparison of relative performance. Phenotype and filtered genotype data for the 47 cohort cases with reported molecular diagnoses were analyzed via the transitive maximum OE algorithms, phenotype-collapsing alternative algorithms, and an array of comparator tools. While OE assigned to the reported variant genes median ranks of 2 to 3, the comparator tools assigned median ranks of 1.5 to 54. OE returned reported variant gene scores for more cases, and with lower median ranks, than did 4 of the 5 comparator tools. Phen-Gen did not return scores for the reported variant gene in 32 of the 47 cases (68.09 %), but outperformed OE, with a median rank of 1.5, across the 15 cases (31.91 %) for which it did return scores for the reported variant gene. (PDF 27 kb)


National Institute of Neurological Disorders and Stroke