ArticlePLoS genetics2019
UMAP reveals cryptic population structure and phenotype heterogeneity in large genomic cohorts.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 2 of them syntheses that pooled it.
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Who cites it
116 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo.Communications biology · 2021Pooled it
- Functional Gene Expression Differentiation of the Notch Signaling Pathway in Female Reproductive Tract Tissues-A Comprehensive Review With Analysis.Frontiers in cell and developmental biology · 2020Pooled it
- Unique circulating miRNAome signatures captured with distinct molecular states in Lynch syndrome and sporadic colorectal cancer.Molecular oncology · 2026Article
- ARGformer: learning on ancestral recombination graphs with transformers.Bioinformatics (Oxford, England) · 2026Article
- lcUMAPtSNE: use of non-linear dimensionality reduction techniques with genotype likelihoods.BMC genomics · 2026Article
- Comparative classification of spectrally overlapping Allium seed genotypes using Vis-NIR spectroscopy and hyperspectral imaging with chemometric, machine, and deep learning models.Scientific reports · 2026Article
- Estimating population structure using epigenome-wide methylation data.Briefings in bioinformatics · 2026Article
- Topological stratification of continuous genetic variation in large biobanks.PLoS genetics · 2026Article
- Interstitial cystitis: a phenotype and rare variant exome sequencing study.EBioMedicine · 2026Article
- SASdb: a comprehensive database for sex-biased alternative splicing profiles in human tissues.Biology of sex differences · 2026Article
- A catalogue of early diverged contemporary human genome variation reveals distinct Khoe-San populations.Nature communications · 2026Article
- A multi-ancestry genetic reference for the Quebec population.Nature communications · 2026Article
- Review of deep learning models for Alzheimer's disease detection: MRI-centric approaches and multimodal extensions.Frontiers in artificial intelligence · 2026Review
- Distinct Genetic Footprint of Adaptation Observed WithinResearch and reports in tropical medicine · 2026Article
- Limited transferability of European-based body mass index and blood pressure polygenic scores to admixed Brazilian cohorts.Frontiers in medicine · 2026Article
- Genetic association analyses of cognitive performance across multi-ancestry older adults: Application of Tobit models.Journal of Alzheimer's disease : JAD · 2025Article
- Consensus spectral clustering with weighted similarity functions for single-cell RNA sequencing data.Communications in statistics: Simulation and computation · 2025Article
- A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis.Nature medicine · 2025Article
- Rare diseases load through the study of a regional population.PLoS genetics · 2025Article
- Quantile-specific confounding: correction for subtle population stratification via quantile regression.Genetics · 2025Article
56 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Human populations feature both discrete and continuous patterns of variation. Current analysis approaches struggle to jointly identify these patterns because of modelling assumptions, mathematical constraints, or numerical challenges. Here we apply uniform manifold approximation and projection (UMAP), a non-linear dimension reduction tool, to three well-studied genotype datasets and discover overlooked subpopulations within the American Hispanic population, fine-scale relationships between geography, genotypes, and phenotypes in the UK population, and cryptic structure in the Thousand Genomes Project data. This approach is well-suited to the influx of large and diverse data and opens new lines of inquiry in population-scale datasets.
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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.