ArticleNature communications2016
Joint mouse-human phenome-wide association to test gene function and disease risk.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 1 of them a synthesis 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
104 citing papers in PubMed, 1 synthesis or guideline pooled it, 149 citations in OpenAlex.
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- Integrated Cross-Platform Analysis Reveals Candidate Variants and Linkage Disequilibrium-Defined Loci Associated with Osteoporosis in Korean Postmenopausal Women.Diagnostics (Basel, Switzerland) · 2026Article
- Genome-Wide Association Study of Osteoporosis Risk in Korean Pre-Menopausal Women: The Korean Genome and Epidemiology Study.International journal of molecular sciences · 2025Article
- Emerging trends and hotspots in animal experimental research on lung transplantation from 2004 to 2023: a bibliometric analysis.Journal of thoracic disease · 2025Article
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- Genetic regulation of human brain proteome reveals proteins implicated in psychiatric disorders.Molecular psychiatry · 2024Article
- Adaptations in glutathione-based redox protein signaling pathways and alcohol drinking across species.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2024Article
- Systems genetics identifies methionine as a high risk factor for Alzheimer's disease.Frontiers in neuroscience · 2024Article
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- Exploring the Regulation and Function ofGenes · 2023Article
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- Systems genetics approaches for understanding complex traits with relevance for human disease.eLife · 2023Review
- Adaptor protein complex 2 in the orbitofrontal cortex predicts alcohol use disorder.Molecular psychiatry · 2023Article
- Genome-wide screen identifies host loci that modulate Mycobacterium tuberculosis fitness in immunodivergent mice.G3 (Bethesda, Md.) · 2023Article
44 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
26 authors at 8 institutions in 3 countries.
Funding
Abstract
Phenome-wide association is a novel reverse genetic strategy to analyze genome-to-phenome relations in human clinical cohorts. Here we test this approach using a large murine population segregating for ∼5 million sequence variants, and we compare our results to those extracted from a matched analysis of gene variants in a large human cohort. For the mouse cohort, we amassed a deep and broad open-access phenome consisting of ∼4,500 metabolic, physiological, pharmacological and behavioural traits, and more than 90 independent expression quantitative trait locus (QTL), transcriptome, proteome, metagenome and metabolome data sets--by far the largest coherent phenome for any experimental cohort (www.genenetwork.org). We tested downstream effects of subsets of variants and discovered several novel associations, including a missense mutation in fumarate hydratase that controls variation in the mitochondrial unfolded protein response in both mouse and Caenorhabditis elegans, and missense mutations in Col6a5 that underlies variation in bone mineral density in both mouse and human.
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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.