Open Access

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^*

GMLab, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, 37134, Italy

* Corresponding Authors: MIRKO TRECCANI. Email: ; GIOVANNI MALERBA. Email:

(This article belongs to the Special Issue: Bioinformatics Study of Diseases)

BIOCELL 2023, 47(6), 1225-1241. https://doi.org/10.32604/biocell.2023.027884

Received 19 November 2022; Accepted 16 February 2023; Issue published 19 May 2023

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 presenting the main areas of interest, with a closer look to the most up-to-date approaches and a deeper understanding of its usage in the present-day genomic landscape, shedding a light on its future developments and investigation areas.

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Keywords

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