Additional file 2: Table S3. of Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases
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This table lists the detailed results used for benchmarking and comparison analysis. In particular, for all 27 patient cases it shows the observed clinical phenotypes used as input, as well as all corresponding previously known causal genes. It also shows ranking of causal genes in PDR (after running analyses in Ingenuity Variant Analysis taking whole genome data as input), the corresponding disease inferred by PDR, and causal variant properties. For comparison, the rank of the causal gene obtained from Phenolyzer is also shown. (XLSX 34 kb)
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2017-08-12



