ArticleNature communications2020
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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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
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Genetic analyses of inflammatory polyneuropathy and chronic inflammatory demyelinating polyradiculoneuropathy identified candidate genes.HGG advances · 2024Pooled it
- Advancing PCOS drug development: multi-omics discovery of key targets and repurposable compounds.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Experimental and computational methods for allelic imbalance analysis from single-nucleus RNA-seq data.Genome biology · 2026Article
- Integrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene Expression Effects in Disease.bioRxiv : the preprint server for biology · 2026Article
- A whole-transcriptome analysis of differentially expressed genes, transcripts, and transcript usage in blood samples from Parkinson's disease patients.Experimental biology and medicine (Maywood, N.J.) · 2026Article
- Genetic Analysis of the X Chromosome Associates Loci with Progression of Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- The Exon-Based Transcriptomic Analysis of Parkinson's Disease.Biomolecules · 2025Article
- Leveraging large-scale multi-omics evidences to identify therapeutic targets from genome-wide association studies.BMC genomics · 2024Article
- Extensive co-regulation of neighboring genes complicates the use of eQTLs in target gene prioritization.HGG advances · 2024Article
- Targeted co-expression networks for the study of traits.Scientific reports · 2024Article
- Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.Journal of medical genetics · 2024Article
- A genetic and transcriptomic assessment of the KTN1 gene in Parkinson's disease risk.Neurobiology of aging · 2024Article
- eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.PLoS genetics · 2023Article
- Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally.Scientific reports · 2023Article
- Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS loci.bioRxiv : the preprint server for biology · 2023Article
- aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3.GigaByte (Hong Kong, China) · 2023Article
- Sex differences in multilayer functional network topology over the course of aging in 37543 UK Biobank participants.Network neuroscience (Cambridge, Mass.) · 2023Article
- Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.Brain : a journal of neurology · 2022Article
- Non-reference genome transposable elements (TEs) have a significant impact on the progression of the Parkinson's disease.Experimental biology and medicine (Maywood, N.J.) · 2022Article
- Genetic control of RNA splicing and its distinct role in complex trait variation.Nature genetics · 2022Article
Corrections and comments
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Authors and funding
20 authors at 20 institutions in 15 countries.
Funding
Abstract
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/.
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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.