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Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes

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Academic year: 2021

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Figure

Fig. 1 Graphical representation of steps performed by Aldy
Table 1 Summary of CYP2D6 genotypes inferred by Aldy in comparison to other tools on the set of 32 Coriell trios, i.e., 96 PGRNseq v.2 sequenced samples, and on Illumina WGS samples, grouped by the type of the events occurring in the sample
Fig. 2 Graphical representation of the various structural con fi gurations and their corresponding vectors v
Table 3 Summary of the samples where CYP2D6 cannot be genotyped by simple (or single) mutation tagging (i.e., by testing for the existence of mutations that de fi ne the underlying star-alleles)

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