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Fig. 2 | Genome Biology

Fig. 2

From: ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Fig. 2

(Left) A search for anchored IRRs is performed across all aligned reads. (Middle) The IRR counts are summarized into STR profiles. (Right) The resulting STR profiles are merged across all samples. If the dataset can be partitioned into cases and controls, IRR counts in these groups are compared for each locus. Alternatively, if no such partition is possible, an outlier analysis is performed

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Genome Biology

ISSN: 1474-760X

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