ArticleGenome research2024
A harmonized public resource of deeply sequenced diverse human genomes.
Article in Genome research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
108 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Pooled it
- Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.The Journal of experimental medicine · 2024Pooled it
- A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation.Communications biology · 2024Pooled it
- A founder population reveals genetic variation with major effect on serious mental illness.medRxiv : the preprint server for health sciences · 2026Article
- plinkQC: an integrated tool for ancestry inference, sample selection, and quality control in population genetics.Bioinformatics (Oxford, England) · 2026Article
- Protocol for leveraging local ancestry and cross-ancestry genetic architecture to improve polygenic prediction in admixed populations.STAR protocols · 2026Article
- A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.Nature genetics · 2026Article
- Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing.HGG advances · 2026Article
- Genetic and transcriptomic determinants of disseminated coccidioidomycosis identify a founder variant inmedRxiv : the preprint server for health sciences · 2026Article
- A transparent and generalizable deep-learning framework for genomic ancestry prediction.American journal of human genetics · 2026Article
- Polygenic background contributes to GCK-MODY clinical presentation and glycaemic variability.Diabetologia · 2026Article
- HOROSCOPE: Decoding human centromere architecture from short reads usingbioRxiv : the preprint server for biology · 2026Article
- Enhancement of hidden Markov model analyses for improved inference of archaic introgression in modern humans.Molecular biology and evolution · 2026Article
- High-resolution analysis of recent population structure using rare variants.G3 (Bethesda, Md.) · 2026Article
- Geographic and genetic diversity in gallbladder cancer mutation profiles: insights from a worldwide exome analysis.EBioMedicine · 2026Article
- A Rarefaction Approach to Identify Local Introgression in a Three Population Tree.bioRxiv : the preprint server for biology · 2026Article
- A sibling study of variation in parental mutation rates.bioRxiv : the preprint server for biology · 2026Article
- Metabolic polygenic risk scores for prediction of obesity, type 2 diabetes, and related morbidities.Cell metabolism · 2026Article
- Tractor workflow: a scalable Nextflow framework for local ancestry-aware genome-wide association studies.Bioinformatics (Oxford, England) · 2026Article
- Adaptive loss of function accelerated the evolution of ancient and modern human cognition.bioRxiv : the preprint server for biology · 2026Article
48 more citing papers are in PubMed but not listed here.
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22 authors.
Funding
Abstract
Underrepresented populations are often excluded from genomic studies owing in part to a lack of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human Genome Diversity Project (HGDP), which have recently been sequenced to high coverage, are valuable genomic resources because of the global diversity they capture and their open data sharing policies. Here, we harmonized a high-quality set of 4094 whole genomes from 80 populations in the HGDP and 1kGP with data from the Genome Aggregation Database (gnomAD) and identified over 153 million high-quality SNVs, indels, and SVs. We performed a detailed ancestry analysis of this cohort, characterizing population structure and patterns of admixture across populations, analyzing site frequency spectra, and measuring variant counts at global and subcontinental levels. We also show substantial added value from this data set compared with the prior versions of the component resources, typically combined via liftOver and variant intersection; for example, we catalog millions of new genetic variants, mostly rare, compared with previous releases. In addition to unrestricted individual-level public release, we provide detailed tutorials for conducting many of the most common quality-control steps and analyses with these data in a scalable cloud-computing environment and publicly release this new phased joint callset for use as a haplotype resource in phasing and imputation pipelines. This jointly called reference panel will serve as a key resource to support research of diverse ancestry populations.
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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.