Additional file 3 of Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

Additional file 3: Fig S1: exSTRa plots of EGA and simulated genomes. Fig S2: Decision tree model of the default analysis of Isaac-aligned EGA genomes on the training dataset. Fig S3: Performance metrics of the decision tree model in the default analysis of Isaac-aligned EGA genomes on the test dataset. Fig S4: Decision tree model of the default analysis of BWA-aligned EGA genomes on the training dataset. Fig S5: Performance metrics of the decision tree model in the default analysis of BWA-aligned EGA genomes on the test dataset. Fig S6: exSTRa plots of EGA genomes analyzed with 100 controls. Fig S7: Decision tree model of the modified analysis of Isaac-aligned EGA genomes on the training dataset. Fig S8: Performance metrics of decision tree model in the modified analysis of Isaac-aligned EGA test dataset. Fig S9: Allele frequency distribution of analyzed disease short tandem repeat loci in the CAUSES exomes. Fig S10: Allele frequency distribution of analyzed disease short tandem repeat loci in the CAUSES and IMAGINE genomes. Fig S11: Coverage and alignment statistics of Isaac- and BWA-aligned EGA genomes. Fig S12: Analysis of the DMPK locus by ExpansionHunter version 2 with and without off-target sites in the EGA dataset