Fig. 3

STRling shows superior position accuracy at known pathogenic loci. STRling and ExpansionHunter Denovo (EHdn) were run on PCR-free Illumina WGS of 134 subjects with known STR disease status, 94 of which had alleles of pathogenic size (those plotted here). STRling was run on an individual genome “Individual calling” or on all 134 genomes together “Joint calling.” EHdn was run with all affected genomes together in outlier mode “EHdn affected vs. affected”, or each of the true positives was run in outlier mode with a set of 260 unaffected individuals from 1000 genomes “EHdn affected vs. controls.” A locus was considered found if an STR expansion with the pathogenic repeat unit was reported within 500bp of the true locus. Max position error is the position difference between the known and predicted locus (max of upstream and downstream). Zero indicates the predicted position is within or at the bounds of the known locus. STRling was able to detect the true locus position to base pair accuracy for most loci, with greater accuracy using joint-calling, with greater accuracy than ExpansionHunter Denovo under all conditions tested