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Fig. 2 | BMC Bioinformatics

Fig. 2

From: PRS-on-Spark (PRSoS): a novel, efficient and flexible approach for generating polygenic risk scores

Fig. 2

PRSoS allele matching solution for strand-ambiguous SNPs. The effect alleles and their reverse complements are indicated in red. The discovery effect allele and the target allele 1 are the same if their allele frequencies are both less than 0.4 or both more than 0.6 (top). The target allele 1 is not the effect allele if one has low allele frequency and the other has high allele frequency (middle). Strand-ambiguous SNPs with an allele frequency between 0.4 and 0.6 are excluded to increase the certainty of matching alleles

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