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Genotype imputation accuracy with different reference panels in ...


Genotype imputation accuracy with different reference panels in ...

Genome-wide association studies have successfully identified common variants that are associated with complex diseases.

A diverse ancestrally-matched reference panel increases genotype ...

At different minor allele frequencies (MAFs), imputation using GenomeAsia offered better accuracy when compared to the other reference panels ( ...

Genotype imputation accuracy and the quality metrics of the minor ...

In simulated reference panels with different sizes and ancestral diversities, the θ value estimates from Minimac decreased with the size of a ...

Performance and accuracy evaluation of reference panels for ...

To assess the accuracy of the genotypes imputed by different panels, we sequenced 95 samples from the AWI-Gen South African dataset at high ...

A population-specific reference panel for improved genotype ...

This reference panel substantially improves imputation accuracy for individuals with Atlantic African ancestry compared to other publicly ...

Evaluation of imputation performance of multiple reference panels in ...

Our study compared different reference panels to impute genotype data in 1814 Pakistani individuals, finding the best performance balancing accuracy and ...

Genotype Imputation from Large Reference Panels

Different studies often use different genotyping arrays containing different sets of variants. For instance, only 20% of the SNPs included on ...

Imputation accuracy across global human populations - ScienceDirect

By predicting unobserved genotypes based on a reference panel of externally sequenced individuals, imputation increases marker density, improves the statistical ...

Meta-imputation: An efficient method to combine genotype data after ...

We describe meta-imputation, a method that allows imputation results generated using different reference panels to be combined into a consensus imputed dataset.

Investigating the impact of reference panels errors on imputation ...

Investigating the impact of reference panel errors on imputation quality and genotype accuracy ... varying sequencing coverages (0.5x, 1.0x ...

The size and composition of haplotype reference panels impact the ...

Within-breed haplotype reference panels were more accurate and efficient to impute sequence variant genotypes from low-pass sequencing than ...

Improved imputation accuracy of rare and low-frequency variants ...

We compared the 'best guess' genotypes imputed from the different reference panels to WES data available for a subset of imputed EGCUT ...

Meta-imputation: An efficient method to combine genotype data after ...

In the scenarios we examined, the method consistently outperforms imputation using a single reference panel and achieves accuracy compa- rable ...

bbad509.pdf - Oxford Academic

We imputed genotypes of East Asian (180k Japanese) subjects using the Trans-Omics for Precision Medicine reference panel and found that the ...

A Flexible and Accurate Genotype Imputation Method for the Next ...

We find that IMPUTE v2 attains higher accuracy than other methods when the HapMap provides the sole reference panel, but that the size of the panel constrains ...

The effects of reference panel perturbations on the accuracy of ...

On the other hand, even small perturbations to the genotypes cause dramatic decreases in imputation accuracy; genotyping error at a rate of 0.1% ...

Genotype imputation accuracy and the quality metrics of the minor ...

Abstract Large-scale imputation reference panels are currently available and have contributed to efficient genome-wide association studies through genotype ...

Evaluating the Accuracy of Imputation Methods in a Five-Way ...

Three different reference panels were ... Genotype imputation performance of three reference panels using african ancestry individuals.

(PDF) Genotype imputation accuracy and the quality metrics of the ...

In simulated reference panels with different sizes and ancestral diversities, the θ value estimates from Minimac decreased with the size of ...

[PDF] A Flexible and Accurate Genotype Imputation Method for the ...

It is found that imputation accuracy can be greatly enhanced by expanding the reference panel to contain thousands of chromosomes and that IMPUTE v2 ...