ArticlePloS one2013
Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- A simple demonstration of a privacy-preserving de-centralised genotype imputation workflow.PloS one · 2026Article
- How local reference panels improve imputation in French populations.Scientific reports · 2024Article
- Article
- Large scale phenotype imputation and in vivo functional validation implicate ADAMTS14 as an adiposity gene.Nature communications · 2023Article
- Overcoming the challenges of imputation of rare variants in a Taiwanese cohort.Translational cancer research · 2020Article
- Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.Scientific reports · 2019Article
- Revisit Population-based and Family-based Genotype Imputation.Scientific reports · 2019Article
- Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.Genome medicine · 2017Article
- PreCimp: Pre-collapsing imputation approach increases imputation accuracy of rare variants in terms of collapsed variables.Genetic epidemiology · 2017Article
- A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data.BMC genomics · 2015Article
- Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort.PLoS genetics · 2015Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
The analysis of less common variants in genome-wide association studies promises to elucidate complex trait genetics but is hampered by low power to reliably detect association. We show that addition of population-specific exome sequence data to global reference data allows more accurate imputation, particularly of less common SNPs (minor allele frequency 1-10%) in two very different European populations. The imputation improvement corresponds to an increase in effective sample size of 28-38%, for SNPs with a minor allele frequency in the range 1-3%.
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Registered trials
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