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

Authors :
TRECCANI, MIRKO
LOCATELLI, ELENA
PATUZZO, CRISTINA
MALERBA, GIOVANNI
Source :
Biocell. 2023, Vol. 47 Issue 6, p1225-1241. 17p.
Publication Year :
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 presentday genomic landscape, shedding a light on its future developments and investigation areas. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03279545
Volume :
47
Issue :
6
Database :
Academic Search Index
Journal :
Biocell
Publication Type :
Academic Journal
Accession number :
163958178
Full Text :
https://doi.org/10.32604/biocell.2023.027884