ArticleNature genetics2017
Population- and individual-specific regulatory variation in Sardinia.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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.
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Who cites it
30 citing papers in PubMed, 49 citations in OpenAlex.
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- Genetic co-regulation of neopterin and Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Insularity, character traits and local political interference: the pivotal players of the Sardinia regional health service's progressive decline.Frontiers in public health · 2026Article
- A brief guide to analyzing expression quantitative trait loci.Molecules and cells · 2024Review
- Integrating Iso-seq and RNA-seq data for the reannotation of the greater amberjack genome.Scientific data · 2024Article
- Atrial fibrillation: pathophysiology, genetic and epigenetic mechanisms.The Lancet regional health. Europe · 2024Review
- Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset.Frontiers in immunology · 2024Article
- Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.Nature genetics · 2023Article
- The functional impact of rare variation across the regulatory cascade.Cell genomics · 2023Article
- Beyond the exome: What's next in diagnostic testing for Mendelian conditions.American journal of human genetics · 2023Review
- Effect of Genetic Factors, Age and Sex on Levels of Circulating Extracellular Vesicles and Platelets.International journal of molecular sciences · 2023Article
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- Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.Human molecular genetics · 2022Article
- Genetic architecture of band neutrophil fraction in Iceland.Communications biology · 2022Article
- Splice variants denote differences between a cancer stem cell side population of EWSR1‑ERG‑based Ewing sarcoma cells, its main population and EWSR1‑FLI‑based cells.International journal of molecular medicine · 2022Article
- Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.Genome medicine · 2021Article
- Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.medRxiv : the preprint server for health sciences · 2021Article
- Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.Research square · 2021Article
- Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.Nature genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors at 9 institutions in 3 countries.
Funding
Abstract
Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicing. We identified 21,183 expression quantitative trait loci (eQTLs) and 6,768 splicing quantitative trait loci (sQTLs), including 619 new QTLs. We identified high-frequency QTLs and found evidence of selection near genes involved in malarial resistance and increased multiple sclerosis risk, reflecting the epidemiological history of Sardinia. Using family relationships, we identified 809 segregating expression outliers (median z score of 2.97), averaging 13.3 genes per individual. Outlier genes were enriched for proximal rare variants, providing a new approach to study large-effect regulatory variants and their relevance to traits. Our results provide insight into the effects of regulatory variants and their relationship to population history and individual genetic risk.
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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.