Table 2.

Confidence about STR Calls for Each Disease Locus through Experimental Validations, Simulation Support, and Mendelian Error Analysis

Experimental Validation	Risk Allele Observed in This Study	Simulation Supports Inference of Risk Alleles?	Loci
YES	YES	YES	HD, SBMA, SCA1, SCA2, SCA8, SCA17, DM1, FXTAS
NO	YES	YES	OPMD, SCA6, BPES, CCD, CCHS, HFG, SD5, FRDA (carriers)
NO	NO	YES	DM2, DRPLA, HDL, ULD, SCA3, SCA7, SCA12, EIEE1, HPE5, XLMR, ALS
NO	NO	NO	FXS, FRAXE, SCA10, SCA36 (risk allele exceeding 500 bp, or typical paired-end distance for Illumina libraries)
Imprecise size estimates (Mendelian error rate > 10%)			FXTAS/FXS, FRAXE, ALS, SCA7, CCHS, SCA17, EIEE1