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 

机构地区：[1]GMLab,Department of Neurosciences,Biomedicine and Movement Sciences,University of Verona,Verona,37134,Italy

出　　处：《BIOCELL》2023年第6期1225-1241,共17页生物细胞（英文）

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 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.

关 键 词：Haplotypes Variant Calling INFERENCE Linkage Analysis NGS 

分 类 号：Q78[生物学—分子生物学]