ArticleHuman genetics2018
Genotype imputation performance of three reference panels using African ancestry individuals.
Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 57 citations in OpenAlex.
- Aberrant one-carbon metabolism and ancestral genetics underlie edematous severe acute malnutrition.Nature communications · 2026Article
- Article
- weIMPUTE: a user-friendly web-based genotype imputation platform.Frontiers in genetics · 2025Article
- SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations.Nature communications · 2024Article
- Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder.Journal of neurodevelopmental disorders · 2024Article
- Sequencing whole genomes of the West Javanese population in Indonesia reveals novel variants and improves imputation accuracy.bioRxiv : the preprint server for biology · 2024Article
- Decoding polygenic diseases: advances in noncoding variant prioritization and validation.Trends in cell biology · 2024Review
- Sequencing whole genomes of the West Javanese population in Indonesia reveals novel variants and improves imputation accuracy.Frontiers in genetics · 2024Article
- A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population.Scientific reports · 2023Article
- Haplotype sequence collection of ABO blood group alleles by long-read sequencing reveals putative A1-diagnostic variants.Blood advances · 2023Article
- Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet.HemaSphere · 2023Article
- Article
- Pharmacogenomic and Statistical Analysis.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Article
- Article
- Genotype imputation and polygenic score estimation in northwestern Russian population.PloS one · 2022Article
- A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.Blood advances · 2021Article
- High-throughput framework for genetic analyses of adverse drug reactions using electronic health records.PLoS genetics · 2021Article
- Impact of pre- and post-variant filtration strategies on imputation.Scientific reports · 2021Article
- Chromatin Accessibility of Human Mitral Valves and Functional Assessment of MVP Risk Loci.Circulation research · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Genotype imputation estimates unobserved genotypes from genome-wide makers, to increase genome coverage and power for genome-wide association studies. Imputation has been successful for European ancestry populations in which very large reference panels are available. Smaller subsets of African descent populations are available in 1000 Genomes (1000G), the Consortium on Asthma among African ancestry Populations in the Americas (CAAPA) and the Haplotype Reference Consortium (HRC). We compared the performance of these reference panels when imputing variation in 3747 African Americans (AA) from two cohorts (HCV and COPDGene) genotyped using Illumina Omni microarrays. The haplotypes of 2504 (1000G), 883 (CAAPA) and 32,470 individuals (HRC) were used as reference. We compared the number of variants, imputation quality, imputation accuracy and coverage between panels. In both cohorts, 1000G imputed 1.5-1.6× more variants than CAAPA and 1.2× more than HRC. Similar findings were observed for variants with imputation R
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.