ArticleBMC genetics2020
Putting RFMix and ADMIXTURE to the test in a complex admixed population.
Article in BMC genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 53 citations in OpenAlex.
- Admixture-informed polygenic risk reporting using the ePRS framework.Nature communications · 2026Article
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- CADET: Enhanced transcriptome-wide association analyses in admixed samples using eQTL summary data.American journal of human genetics · 2025Article
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- Potential Adaptive Introgression From Dogs in Iberian Grey Wolves (Canis lupus).Molecular ecology · 2025Article
- Pharmacogenetic Study of Anti-TB Drugs in the Native Ancestry Peruvian Population.Pharmacology research & perspectives · 2025Article
- ntRoot: computational inference of human ancestry at scale from genomic data.Bioinformatics advances · 2025Article
- The expected polygenic risk score (ePRS) framework: an equitable metric for quantifying polygenetic risk via modeling of ancestral makeup.medRxiv : the preprint server for health sciences · 2024Article
- Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- AncestryGrapher toolkit: Python command-line pipelines to visualize global- and local- ancestry inferences from the RFMIX version 2 software.Bioinformatics (Oxford, England) · 2024Article
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- Article
- Strategies for the Genomic Analysis of Admixed Populations.Annual review of biomedical data science · 2023Review
- Identifying genetic loci that are associated with changes in gene expression in PTSD in a South African cohort.Journal of neurochemistry · 2023Article
- Article
- Genome-wide survey reveals the genetic background of Xinjiang Brown cattle in China.Frontiers in genetics · 2023Article
- Including diverse and admixed populations in genetic epidemiology research.Genetic epidemiology · 2022Article
- Incorporating local ancestry improves identification of ancestry-associated methylation signatures and meQTLs in African Americans.Communications biology · 2022Article
- AFA: Ancestry-specific allele frequency estimation in admixed populations: The Hispanic Community Health Study/Study of Latinos.HGG advances · 2022Article
- GWAS in the southern African context.PloS one · 2022Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlobal and local ancestry inference in admixed human populations can be performed using computational tools implementing distinct algorithms. The development and resulting accuracy of these tools has been tested largely on populations with relatively straightforward admixture histories but little is known about how well they perform in more complex admixture scenarios.
resultsUsing simulations, we show that RFMix outperforms ADMIXTURE in determining global ancestry proportions even in a complex 5-way admixed population, in addition to assigning local ancestry with an accuracy of 89%. The ability of RFMix to determine global and local ancestry to a high degree of accuracy, particularly in admixed populations provides the opportunity for more accurate association analyses.
conclusionThis study highlights the utility of the extension of computational tools to become more compatible to genetically structured populations, as well as the need to expand the sampling of diverse world-wide populations. This is particularly noteworthy as modern-day societies are becoming increasingly genetically complex and some genetic tools and commonly used ancestral populations are less appropriate. Based on these caveats and the results presented here, we suggest that RFMix be used for both global and local ancestry estimation in world-wide complex admixture scenarios particularly when including these estimates in association studies.
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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.