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. 2021 Dec 10;141(1):147–173. doi: 10.1007/s00439-021-02397-7

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© The Author(s) 2021

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Fig. 3 — Integrated PolyGenic Score Definition. A The model is based on the comparison of Boolean features of severity versus Boolean features of mildness. B Graphic representation of the IPGS formula used for this model. C Principle for the calibration of different weighting factors based on the separation of severe and mild cases. D The obtained value for low-frequency, rare, and ultra-rare, being F = 1 for common variants. Common variants are indicated as common haplotypes since they are intended as combinations of coding variants within a single gene (see Fig. 1C and the Material and methods section)