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

作     者：MIRKO TRECCANI ELENA LOCATELLI CRISTINA PATUZZO GIOVANNI MALERBA 

作者机构：GMLabDepartment of NeurosciencesBiomedicine and Movement SciencesUniversity of VeronaVerona37134Italy 

出 版 物：《BIOCELL》 (生物细胞（英文）)

年 卷 期：2023年第47卷第6期

页      面：1225-1241页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 08[工学] 09[农学] 071007[理学-遗传学] 0901[农学-作物学] 0836[工学-生物工程] 090102[农学-作物遗传育种] 

主　　题：Haplotypes Variant Calling Inference Linkage Analysis NGS 

摘      要：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 *** 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 *** 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.