ArticleNucleic acids research2015
The anatomical distribution of genetic associations.
Article in Nucleic acids research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis 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.
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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.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.Nature genetics · 2017Pooled it
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- The Relevance of Reperfusion Stroke Therapy for miR-9-3p and miR-9-5p Expression in Acute Stroke-A Preliminary Study.International journal of molecular sciences · 2024Article
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.Genes, brain, and behavior · 2024Article
- Sbp2l contributes to oligodendrocyte maturation through translational control in Tcf7l2 signaling.iScience · 2023Article
- Challenges in screening forHGG advances · 2023Article
- deCS: A Tool for Systematic Cell Type Annotations of Single-cell RNA Sequencing Data among Human Tissues.Genomics, proteomics & bioinformatics · 2023Article
- Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023Article
- TP53 promotes lineage commitment of human embryonic stem cells through ciliogenesis and sonic hedgehog signaling.Cell reports · 2022Article
- Bromodomain protein BRDT directs ΔNp63 function and super-enhancer activity in a subset of esophageal squamous cell carcinomas.Cell death and differentiation · 2021Article
- A Catalog of Human Genes Associated With Pathozoospermia and Functional Characteristics of These Genes.Frontiers in genetics · 2021Article
- Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.JCI insight · 2020Article
- Review
- A viral toolkit for recording transcription factor-DNA interactions in live mouse tissues.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Genetics of schizophrenia in the South African Xhosa.Science (New York, N.Y.) · 2020Article
- Integrative Omics Approach to Identifying Genes Associated With Atrial Fibrillation.Circulation research · 2020Article
- The Integrated Landscape of Biological Candidate Causal Genes in Coronary Artery Disease.Frontiers in genetics · 2020Article
- Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.Nature genetics · 2018Article
- A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments.BMC genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
Deeper understanding of the anatomical intermediaries for disease and other complex genetic traits is essential to understanding mechanisms and developing new interventions. Existing ontology tools provide functional, curated annotations for many genes and can be used to develop mechanistic hypotheses; yet information about the spatial expression of genes may be equally useful in interpreting results and forming novel hypotheses for a trait. Therefore, we developed an approach for statistically testing the relationship between gene expression across the body and sets of candidate genes from across the genome. We validated this tool and tested its utility on three applications. First, we show that the expression of genes in associated loci from GWA studies implicates specific tissues for 57 out of 98 traits. Second, we tested the ability of the tool to identify novel relationships between gene expression and phenotypes. Specifically, we experimentally confirmed an underappreciated prediction highlighted by our tool: that white blood cell count--a quantitative trait of the immune system--is genetically modulated by genes expressed in the skin. Finally, using gene lists derived from exome sequencing data, we show that human genes under selective constraint are disproportionately expressed in nervous system tissues.
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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.