ArticleFrontiers in genetics2019
Rare Variants Imputation in Admixed Populations: Comparison Across Reference Panels and Bioinformatics Tools.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.Translational psychiatry · 2020Pooled it
- Article
- Selphi, a tool for improving genotype imputation accuracy.Scientific reports · 2026Article
- Large scale sequence-based screen for recessive variants allows for identification and monitoring of rare deleterious variants in pigs.PLoS genetics · 2024Article
- Exploring the role of underrepresented populations in polygenic risk scores for neurodegenerative disease risk prediction.Frontiers in neuroscience · 2024Article
- Strategies for the Genomic Analysis of Admixed Populations.Annual review of biomedical data science · 2023Review
- Admixture Mapping of Alzheimer's disease in Caribbean Hispanics identifies a new locus on 22q13.1.Molecular psychiatry · 2022Article
- Article
- The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.Nature communications · 2021Article
- False discovery rate control in genome-wide association studies with population structure.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Polygenic Risk Score for Alzheimer's Disease in Caribbean Hispanics.Annals of neurology · 2021Article
- A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants.BMC bioinformatics · 2021Article
- GARCOM: A user-friendly R package for genetic mutation counts.F1000Research · 2021Article
- Overcoming the challenges of imputation of rare variants in a Taiwanese cohort.Translational cancer research · 2020Article
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Authors and funding
11 authors.
Funding
Abstract
backgroundImputation has become a standard approach in genome-wide association studies (GWAS) to infer
methodsWe evaluated imputation accuracy in CH (
resultsSHAPEIT2 retrieved higher percentage of imputed high-quality variants than Eagle2 (rare: 51.02% vs. 48.60%; ultra-rare 0.66% vs. 0.65%, Wilcoxon
conclusionReference panels with larger numbers of haplotypes can improve imputation quality for rare and ultra-rare variants in admixed populations such as CH. Ethnic composition is an important predictor of imputation accuracy, with higher African ancestry associated with poorer imputation accuracy.
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