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NIMPRESS performs imputation of variants not in patient VCF #7

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ewilkie opened this issue Dec 9, 2019 · 0 comments
Open

NIMPRESS performs imputation of variants not in patient VCF #7

ewilkie opened this issue Dec 9, 2019 · 0 comments

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@ewilkie
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ewilkie commented Dec 9, 2019

Used the 11 loci from Vijayakrishnan_Houlston_2018_NatCom publication as individual inputs for NIMPRESS and PLINK. Only 6 of those are observed in the patient VCF file. PLINK only produces a score output for those 6. However NIMPRESS also produces scores for the other 5 variants. Those variants are on different chromosomes, different locations, different Ref,ALT, Risk alleles, so no pattern. For the 6 individual loci that are in the patient data, NIMPRESS and PLINK produce the same results. When using multiple loci for a composite PRS score, NIMPRESS and PLINK produce similar scores sometimes and other times they differ substantially. Current tests indicate that NIMPRESS performs imputation by using "related" variants.

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