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    REVIEW

    A broad overview of genotype imputation: Standard guidelines, approaches, and future investigations in genomic association studies

    MIRKO TRECCANI*, ELENA LOCATELLI, CRISTINA PATUZZO, GIOVANNI MALERBA*

    BIOCELL, Vol.47, No.6, pp. 1225-1241, 2023, DOI:10.32604/biocell.2023.027884

    Abstract The advent of genomic big data and the statistical need for reaching significant results have led genome-wide association studies to be ravenous of a huge number of genetic markers scattered along the whole genome. Since its very beginning, the so-called genotype imputation served this purpose; this statistical and inferential procedure based on a known reference panel opened the theoretical possibility to extend association analyses to a greater number of polymorphic sites which have not been previously assayed by the used technology. In this review, we present a broad overview of the genotype imputation process, showing the most known methods and… More >

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