Open Access iconOpen Access

REVIEW

crossmark

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: email; GIOVANNI MALERBA. Email: 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

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.

Keywords


Cite This Article

APA Style
TRECCANI, M., LOCATELLI, E., PATUZZO, C., MALERBA, G. (2023). A broad overview of genotype imputation: standard guidelines, approaches, and future investigations in genomic association studies. BIOCELL, 47(6), 1225-1241. https://doi.org/10.32604/biocell.2023.027884
Vancouver Style
TRECCANI M, LOCATELLI E, PATUZZO C, MALERBA G. A broad overview of genotype imputation: standard guidelines, approaches, and future investigations in genomic association studies. BIOCELL . 2023;47(6):1225-1241 https://doi.org/10.32604/biocell.2023.027884
IEEE Style
M. TRECCANI, E. LOCATELLI, C. PATUZZO, and G. MALERBA "A broad overview of genotype imputation: Standard guidelines, approaches, and future investigations in genomic association studies," BIOCELL , vol. 47, no. 6, pp. 1225-1241. 2023. https://doi.org/10.32604/biocell.2023.027884



cc Copyright © 2023 The Author(s). Published by Tech Science Press.
This work is licensed under a Creative Commons Attribution 4.0 International License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
  • 1909

    View

  • 596

    Download

  • 2

    Like

Share Link