ArticleCell2020
Population Structure, Stratification, and Introgression of Human Structural Variation.
Article in Cell, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 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
54 citing papers in PubMed.
- Genomic structural variations distinguishing archaic and modern humans are associated with neurodevelopment.iScience · 2026Article
- Buffering of gene dosage response curves for human complex traits.Cell genomics · 2026Article
- Multiomics Insights Into the Role of Spondin-1 in the Pathogenesis and Prognosis of Atrial Fibrillation.Journal of the American Heart Association · 2026Article
- Autosomal str allele frequencies, forensic parameters and population structure in four underrepresented indigenous groups from Paraguay.International journal of legal medicine · 2026Article
- A global map for introgressed structural variation and selection in humans.Science (New York, N.Y.) · 2026Article
- A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.American journal of human genetics · 2026Article
- Reflections on the Human Genome Diversity Project: a conversation with Marcus W. Feldman, Henry T. Greely, and Mary-Claire King.Genetics · 2026Article
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- Ancient genomes give insight into 160,000 years of East Asian population dynamics and biological adaptation.Genome biology · 2025Review
- Comprehensive detection of structural variations in long and short reads dataset of French cattle.Scientific reports · 2025Article
- Structural variant landscape provides insights into genome organisation and domestication in European seabass.BMC biology · 2025Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Origins, Dispersal, and Impact: Bidirectional Introgression Between Chinese and European Pig Populations.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility.Nature communications · 2025Article
- Somatic Recombination Between an Ancient and a RecentInternational journal of molecular sciences · 2024Article
- A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.Nature communications · 2024Article
- Comprehensive evaluation and guidance of structural variation detection tools in chicken whole genome sequence data.BMC genomics · 2024Article
- A genome assembly of decaploidHorticulture research · 2024Article
- Strategic targeting of Cas9 nickase induces large segmental duplications.Cell genomics · 2024Article
- Adaptive functions of structural variants in human brain development.Science advances · 2024Article
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Authors and funding
10 authors.
Funding
Abstract
Structural variants contribute substantially to genetic diversity and are important evolutionarily and medically, but they are still understudied. Here we present a comprehensive analysis of structural variation in the Human Genome Diversity panel, a high-coverage dataset of 911 samples from 54 diverse worldwide populations. We identify, in total, 126,018 variants, 78% of which were not identified in previous global sequencing projects. Some reach high frequency and are private to continental groups or even individual populations, including regionally restricted runaway duplications and putatively introgressed variants from archaic hominins. By de novo assembly of 25 genomes using linked-read sequencing, we discover 1,643 breakpoint-resolved unique insertions, in aggregate accounting for 1.9 Mb of sequence absent from the GRCh38 reference. Our results illustrate the limitation of a single human reference and the need for high-quality genomes from diverse populations to fully discover and understand human genetic variation.
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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.