Genotype Imputation from Large Reference Panels

Genotype imputation has become a standard tool in genome-wide association studies because it enables researchers to inexpensively approximate whole-genome sequence data from genome-wide single-nucleotide polymorphism array data. Genotype imputation increases statistical power, facilitates fine mappi...

Full description

Saved in:
Bibliographic Details
Published in:Annual review of genomics and human genetics Vol. 19; p. 73
Main Authors: Das, Sayantan, Abecasis, Gonçalo R, Browning, Brian L
Format: Journal Article
Language:English
Published: United States 31.08.2018
Subjects:
Computer Simulation
Genome-Wide Association Study - methods
Genotype
Humans
Models, Genetic
Polymorphism, Single Nucleotide
GWAS
imputation
genome-wide association study
genotype imputation
ISSN:1545-293X, 1545-293X
Online Access:Get more information
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Genotype imputation has become a standard tool in genome-wide association studies because it enables researchers to inexpensively approximate whole-genome sequence data from genome-wide single-nucleotide polymorphism array data. Genotype imputation increases statistical power, facilitates fine mapping of causal variants, and plays a key role in meta-analyses of genome-wide association studies. Only variants that were previously observed in a reference panel of sequenced individuals can be imputed. However, the rapid increase in the number of deeply sequenced individuals will soon make it possible to assemble enormous reference panels that greatly increase the number of imputable variants. In this review, we present an overview of genotype imputation and describe the computational techniques that make it possible to impute genotypes from reference panels with millions of individuals.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
ObjectType-Review-3
content type line 23
ISSN:1545-293X
1545-293X
DOI:10.1146/annurev-genom-083117-021602