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Detection of long repeat expansions from PCR-free whole-genome sequence data

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Academic year: 2021

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Figure 2. The maximum number of anchored IRRs observed in any of the 2559 samples from cohort one for the genomic loci with at least two anchored IRRs in at least one sample (Methods).
Table 1. Sensitivity and specificity of C9orf72 repeat expansion detection by ExpansionHunter (EH) on the ALS samples taking the updated RP- RP-PCR results as the ground truth
Figure 4 depicts the sizes of the longer repeat allele deter- deter-mined by ExpansionHunter
Figure 4. Sizes of the longer repeat alleles predicted by ExpansionHunter in the 152 samples identified as having either a premutation or an expansion at loci associated with eight different diseases and 24  ad-ditional control samples

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