omim_based_silver_standard: Silver standard based on OMIM <-> HPO/pheocode mapping

Description Usage Format Source Examples

Description

The MIM phenotype to MIM gene map is obtained from genemap2.txt provided by OMIM database (accessed at 07/2019). The MIM phenotypes to HPO/phecode map is provided by Lisa Bastarache.

Usage

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Format

a list of: 1. table: a data.frame with column gene (with Ensembl ID, e.g. ENSG00000133019) , column HPO (HPO term in the format HP:0000126), column phecode (e.g. 595), column EFO (e.g. EFO:0004238); 2. script_info: meta information on how data set is generated.

Source

Source code generating this silver standard dataset

Examples

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liangyy/silver-standard-performance documentation built on Dec. 5, 2019, 8:53 a.m.