@Article{biocell.2023.027884,
AUTHOR = {MIRKO TRECCANI, ELENA LOCATELLI, CRISTINA PATUZZO, GIOVANNI MALERBA},
TITLE = {A broad overview of genotype imputation: Standard guidelines, approaches, and future investigations in genomic association studies},
JOURNAL = {BIOCELL},
VOLUME = {47},
YEAR = {2023},
NUMBER = {6},
PAGES = {1225--1241},
URL = {http://www.techscience.com/biocell/v47n6/52780},
ISSN = {1667-5746},
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.},
DOI = {10.32604/biocell.2023.027884}
}