ArticleNature2015
The UK10K project identifies rare variants in health and disease.
Article in Nature, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05661305 (Aswan Heart Centre - Egyptian Healthy Volunteers), which is not on this map. Cited by 647 papers, 4 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.
Aswan Heart Centre - Egyptian Healthy Volunteers
Who cites it
647 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Pooled it
- Rare-Variant Genome-Wide Association and Polygenic Score Assessment of Vitamin D Status in a Middle Eastern Population.International journal of molecular sciences · 2025Pooled it
- X-linked genetic associations in sporadic thoracic aortic dissection.American journal of medical genetics. Part A · 2024Pooled it
- CMDB: the comprehensive population genome variation database of China.Nucleic acids research · 2023Pooled it
- Structural variant detection across sequencing technologies.Nature biotechnology · 2026Article
- Interpreting human genetic variation at atomic resolution.Nature genetics · 2026Review
- Genetic associations with alcohol drinking initiation and cessation in sub-Saharan African and African ancestry populations.Research square · 2026Article
- Genome-wide association study of asthma with high treatment burden and/or worse outcomes defined using electronic healthcare data in UK Biobank.ERJ open research · 2026Article
- Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.iScience · 2026Article
- Alternative tandem transcription initiation links noncoding variants to human disease through translational control.Nature communications · 2026Article
- The combined association between sleep duration and insomnia symptoms with dementia and cognitive deficits: a multivariable-adjusted and genetic liability study.GeroScience · 2026Article
- Rare Coding Variants Reveal Distinct Genetic Architectures Across Multidimensional Sleep Phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Bidirectional genetic and phenotypic links between smoking and striatal iron content involving dopaminergic and inflammatory pathways.Addiction (Abingdon, England) · 2026Article
- Evaluating confounding in rare variant genome wide association studies.Nature communications · 2026Article
- Single-cell multi-omic integration analysis prioritizes druggable genes and reveals cell-type-specific causal effects in glioblastomagenesis.Journal of translational medicine · 2026Article
- Metabolic polygenic risk scores for prediction of obesity, type 2 diabetes, and related morbidities.Cell metabolism · 2026Article
- From early-onset asthma to chronic obstructive pulmonary disease: potential mediating proteins and therapeutic targets.Briefings in bioinformatics · 2026Article
- Fifteen Years of the Genome Analysis Toolkit as the De Facto Standard in Short-Read Variant Calling.International journal of molecular sciences · 2026Review
- Rare regulatory mutations disrupt mesenchymal molecular programs driving endocardial cushion formation in bicuspid aortic valve.Nature communications · 2026Article
- Population genetic variation characterised through serial independent pool-seq: the Cyprus Genome Project.Scientific reports · 2026Article
587 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors.
Funding
Abstract
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with levels of triglycerides (APOB), adiponectin (ADIPOQ) and low-density lipoprotein cholesterol (LDLR and RGAG1) from single-marker and rare variant aggregation tests. We describe population structure and functional annotation of rare and low-frequency variants, use the data to estimate the benefits of sequencing for association studies, and summarize lessons from disease-specific collections. Finally, we make available an extensive resource, including individual-level genetic and phenotypic data and web-based tools to facilitate the exploration of association results.
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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.