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Updated: Feb 10, 2026

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Genotype Imputation from Large Reference Panels.

Sayantan Das¹, Gonçalo R Abecasis¹, Brian L Browning²

¹Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109-2029, USA; email: sayantan@umich.edu , goncalo@umich.edu.

Annual Review of Genomics and Human Genetics

|May 26, 2018

Summary

This summary is machine-generated.

Genotype imputation uses reference panels to approximate whole-genome sequencing data from SNP arrays. New computational methods will enable imputation from massive reference panels with millions of individuals.

Keywords:

GWAS genome-wide association study genotype imputation imputation

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Area of Science:

Genetics
Bioinformatics
Computational Biology

Background:

Genotype imputation is crucial for genome-wide association studies (GWAS), enabling cost-effective approximation of whole-genome sequence data from SNP array data.
It enhances statistical power, aids in fine-mapping causal variants, and is vital for meta-analyses in genetic research.

Purpose of the Study:

To provide an overview of genotype imputation techniques.
To describe computational methods for imputing genotypes using large-scale reference panels.

Main Methods:

Review of existing genotype imputation methodologies.
Description of computational approaches for handling large reference panels.

Main Results:

Genotype imputation leverages reference panels to infer missing genotypes.
The expansion of sequenced individuals allows for the creation of enormous reference panels.
Computational techniques are evolving to manage these massive datasets for imputation.

Conclusions:

Genotype imputation is a standard and powerful tool in genetic research.
Future advancements in reference panel size and computational methods will significantly expand imputable variants.