ArticleScientific reports2020
Qtlizer: comprehensive QTL annotation of GWAS results.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
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- lncRNA CDKN2B-AS1 regulates collagen expression.Human genetics · 2024Article
- Immunogenetics of lithium response and psychiatric phenotypes in patients with bipolar disorder.Translational psychiatry · 2024Article
- The potential role of miRNAs and regulation of their expression in the development of mare endometrial fibrosis.Scientific reports · 2023Article
- Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels.iScience · 2023Article
- Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes.Circulation research · 2023Article
- Microbiome-associated human genetic variants impact phenome-wide disease risk.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk.Nature genetics · 2022Article
- Genome-wide association study for systemic lupus erythematosus in an egyptian population.Frontiers in genetics · 2022Article
- BACH1 Binding Links the Genetic Risk for Severe Periodontitis withJournal of dental research · 2022Article
- Article
- A compendium of uniformly processed human gene expression and splicing quantitative trait loci.Nature genetics · 2021Article
- Variation in genes implicated in B-cell development and antibody production affects susceptibility to pemphigus.Immunology · 2021Article
- An integrated personal and population-based Egyptian genome reference.Nature communications · 2020Article
- ABC-GWAS: Functional Annotation of Estrogen Receptor-Positive Breast Cancer Genetic Variants.Frontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Exploration of genetic variant-to-gene relationships by quantitative trait loci such as expression QTLs is a frequently used tool in genome-wide association studies. However, the wide range of public QTL databases and the lack of batch annotation features complicate a comprehensive annotation of GWAS results. In this work, we introduce the tool "Qtlizer" for annotating lists of variants in human with associated changes in gene expression and protein abundance using an integrated database of published QTLs. Features include incorporation of variants in linkage disequilibrium and reverse search by gene names. Analyzing the database for base pair distances between best significant eQTLs and their affected genes suggests that the commonly used cis-distance limit of 1,000,000 base pairs might be too restrictive, implicating a substantial amount of wrongly and yet undetected eQTLs. We also ranked genes with respect to the maximum number of tissue-specific eQTL studies in which a most significant eQTL signal was consistent. For the top 100 genes we observed the strongest enrichment with housekeeping genes (P = 2 × 10
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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 Socratic graph.