Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel.

European journal of human genetics : EJHG - 1 Jun 2017

Mitt Mario, Kals Mart, Pärn Kalle, Gabriel Stacey B, Lander Eric S, Palotie Aarno, Ripatti Samuli, Morris Andrew P, Metspalu Andres, Esko Tõnu, Mägi Reedik, Palta Priit

Abstract excerpt

Genetic imputation is a cost-efficient way to improve the power and resolution of genome-wide association (GWA) studies. Current publicly accessible imputation reference panels accurately predict genotypes for common variants with minor allele frequency (MAF)≥5% and low-frequency variants (0.5≤MAF<5%) across diverse populations, but the imputation of rare variation (MAF<0.5%) is still rather limited. In the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Gene Frequency
Share to MAF gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Genome-Wide Association Study

Share to Haplotypes

Share to Polymorphism, Single Nucleotide

Share to Reference Standards

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 28401899
DOI: 10.1038/ejhg.2017.51
PMCID: PMC5520064

Genes

MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel.PMID 28401899Read ↗

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.Semantic proximity Read ↗

Improving accuracy of rare variant imputation with a two-step imputation approach.Semantic proximity Read ↗

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.Semantic proximity Read ↗

Effect of genome-wide genotyping and reference panels on rare variants imputation.Semantic proximity Read ↗

Genotype-imputation accuracy across worldwide human populations.Semantic proximity Read ↗

Imputation accuracy across global human populations.Semantic proximity Read ↗

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.Semantic proximity Read ↗

A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data.Semantic proximity Read ↗

Accurate Imputation of Untyped Variants from Deep Sequencing Data.Semantic proximity Read ↗

Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels.Semantic proximity Read ↗

Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse PopulationsSemantic proximity Read ↗

High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.