TY  - EJOU
AU  - TRECCANI, MIRKO 
AU  - LOCATELLI, ELENA 
AU  - PATUZZO, CRISTINA 
AU  - MALERBA, GIOVANNI 

TI  - A broad overview of genotype imputation: Standard guidelines, approaches, and future investigations in genomic association studies
T2  - BIOCELL

PY  - 2023
VL  - 47
IS  - 6
SN  - 1667-5746

AB  - 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.
KW  - Haplotypes; Variant Calling; Inference; Linkage Analysis; NGS

DO  - 10.32604/biocell.2023.027884