ArticleScience (New York, N.Y.)2020
Insights into human genetic variation and population history from 929 diverse genomes.
Article in Science (New York, N.Y.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 585 papers, 3 of them syntheses that pooled it.
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
585 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Genome-wide analysis implicates inner ear development in Ménière disease.American journal of human genetics · 2026Pooled it
- Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.Genome biology · 2025Pooled it
- Quantifying Sample Representation in Global Pharmacogenomic Studies of Major Depressive Disorder: A Systematic Review.Clinical and translational science · 2025Pooled it
- CYP3A and CYP2D6 variability in antimalarial pharmacokinetics and pharmacogenetics across populations: a narrative review.Malaria journal · 2026Review
- CRISPR-HAWK: haplotype- and variant-aware guide design toolkit for CRISPR-Cas.Bioinformatics (Oxford, England) · 2026Article
- Trans-Eurasian steppe herder and barley farmer migrations shaped paternal genomic dynamics in Northwest China and Hui evolution.Science advances · 2026Article
- Moderate-density SNPs combined with machine learning method driven kinship identification and East Asian subpopulations discrimination analysis.International journal of legal medicine · 2026Article
- Explaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL.Human molecular genetics · 2026Article
- Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.Molecular psychiatry · 2026Article
- Article
- Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.Nature medicine · 2026Article
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Ancient DNA Reveals Limited Hunter-Gatherer Ancestry in the Cerny Culture (Middle Neolithic, France) Despite Hunting-Associated Practices.American journal of biological anthropology · 2026Article
- plinkQC: an integrated tool for ancestry inference, sample selection, and quality control in population genetics.Bioinformatics (Oxford, England) · 2026Article
- Diachronic reuse of Neolithic burial monuments by Bronze Age newcomers in Southwestern Britain.Scientific reports · 2026Article
- Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.iScience · 2026Article
- Jomon genomics reveal cold adaptation in Upper Paleolithic hunter-gatherers of eastern Eurasia.Science advances · 2026Article
- A multi-ancestry polygenic risk score for body mass index predicts longitudinal weight change.Genome medicine · 2026Article
- Population Genomics Insights into Pharmacogenomic Differentiation Between East Asians and Europeans.Clinical pharmacology and therapeutics · 2026Article
- Article
525 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
21 authors.
Funding
Abstract
Genome sequences from diverse human groups are needed to understand the structure of genetic variation in our species and the history of, and relationships between, different populations. We present 929 high-coverage genome sequences from 54 diverse human populations, 26 of which are physically phased using linked-read sequencing. Analyses of these genomes reveal an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, but an absence of such variants fixed between major geographical regions. We also find deep and gradual population separations within Africa, contrasting population size histories between hunter-gatherer and agriculturalist groups in the past 10,000 years, and a contrast between single Neanderthal but multiple Denisovan source populations contributing to present-day human populations.
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.