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Validation of the WGS pipeline. (A) Visualization of repeat expansion reads from ExpansionHunter shows reads revealing 23 and 41 CAG repeat alleles. (B) Comparison of repeat size estimation between WGS pipeline and PCR. n = 133 alleles. Dark points indicate length confirmed by reads spanning the whole repeat and both the flanking sides; light points indicate length confirmed by reads spanning part of the repeat and one flanking side.
