ArticleAmerican journal of human genetics2014
Structural architecture of SNP effects on complex traits.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
What it found
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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.
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
22 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.Nature communications · 2017Pooled it
- Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.Scientific reports · 2016Pooled it
- Six Years of Genetic Diagnosis of Severe Early-Onset Obesity in a French Cohort.Obesity science & practice · 2025Article
- Copy Number Variations of theGenes · 2025Article
- The missing heritability in type 1 diabetes.Diabetes, obesity & metabolism · 2022Review
- Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes.American journal of human genetics · 2022Article
- Integrative transcriptomic, evolutionary, and causal inference framework for region-level analysis: Application to COVID-19.NPJ genomic medicine · 2022Article
- Excess Heritability Contribution of Alcohol Consumption Variants in the "Missing Heritability" of Type 2 Diabetes Mellitus.International journal of molecular sciences · 2021Article
- An Integrative Co-localization (INCO) Analysis for SNV and CNV Genomic Features With an Application to Taiwan Biobank Data.Frontiers in genetics · 2021Article
- Missing heritability of complex diseases: case solved?Human genetics · 2020Review
- Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture.Nature genetics · 2019Article
- Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits.Nature genetics · 2019Article
- GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.American journal of human genetics · 2019Article
- Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.European journal of human genetics : EJHG · 2018Article
- Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping.Scientific reports · 2017Article
- Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data.American journal of human genetics · 2016Article
- Quantitative trait locus analysis of body shape divergence in nine-spined sticklebacks based on high-density SNP-panel.Scientific reports · 2016Article
- A New Method for Detecting Associations with Rare Copy-Number Variants.PLoS genetics · 2015Article
- The impact of human copy number variation on gene expression.Briefings in functional genomics · 2015Review
- Allele-specific copy-number discovery from whole-genome and whole-exome sequencing.Nucleic acids research · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Despite the discovery of copy-number variation (CNV) across the genome nearly 10 years ago, current SNP-based analysis methodologies continue to collapse the homozygous (i.e., A/A), hemizygous (i.e., A/0), and duplicative (i.e., A/A/A) genotype states, treating the genotype variable as irreducible or unaltered by other colocalizing forms of genetic (e.g., structural) variation. Our understanding of common, genome-wide CNVs suggests that the canonical genotype construct might belie the enormous complexity of the genome. Here we present multiple analyses of several phenotypes and provide methods supporting a conceptual shift that embraces the structural dimension of genotype. We comprehensively investigate the impact of the structural dimension of genotype on (1) GWAS methods, (2) interpretation of rare LOF variants, (3) characterization of genomic architecture, and (4) implications for mapping loci involved in complex disease. Taken together, these results argue for the inclusion of a structural dimension and suggest that some portion of the "missing" heritability might be recovered through integration of the structural dimension of SNP effects on complex traits.
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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.