ArticleNature genetics2023
Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain.
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 3 of them syntheses that pooled it.
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Who cites it
49 citing papers in PubMed, 3 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Dissecting Schizophrenia Biology Using Pleiotropy With Cognitive Genomics.Biological psychiatry · 2025Pooled it
- Pooled it
- Multi-ancestry genome-wide association study of cannabis use disorder yields insight into disease biology and public health implications.Nature genetics · 2023Pooled it
- RNA splicing and cardiovascular disease: a guide for cardiologists.European heart journal · 2026Review
- Long-read sequencing reveals widespread novel splicing and neojunction-derived neoantigens in nasopharyngeal carcinoma.Genome research · 2026Article
- IsoformSwitchAnalyzeR v2: analysis of functional isoform changes in long-read and single-cell sequencing data.NAR genomics and bioinformatics · 2026Article
- Beyond the gene: isoform diversity as a key contributor to human brain disorders.Current opinion in genetics & development · 2026Review
- Analysis of gene co-expression connectivity dynamics implicates aberrant neuron-oligodendroglia interactions in schizophrenia.Nature communications · 2026Article
- Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.American journal of human genetics · 2026Article
- Co-expression-based models improve eQTL predictions for transcriptome-wide association studies and highlight new schizophrenia-associated genes.Nature genetics · 2026Article
- Beyond the canonical: The role of post-transcriptional regulation in drug-target interaction prediction.PLoS computational biology · 2026Article
- Isolating transdiagnostic effects reveals specific genetic profiles in psychiatric disorders.JCPP advances · 2026Article
- Transcriptomics and proteomics of projection neurons in a circuit linking hippocampus with dorsolateral prefrontal cortex in the human brain.bioRxiv : the preprint server for biology · 2026Article
- Variant-resolved prediction of context-specific isoform variation with a graph-based attention model.Cell genomics · 2026Article
- Long-read assembly reveals vast transcriptional complexity in the placenta associated with metabolic and endocrine function.Nature communications · 2026Article
- Improving isoform-level eQTL and integrative genetic analyses of breast cancer risk with long-read RNA transcript assemblies.bioRxiv : the preprint server for biology · 2026Article
- Natural variation in transplacental transfer efficiency exposes distinct transcriptional network architectures of PFAS effects on birth weight and gestational age.bioRxiv : the preprint server for biology · 2026Article
- Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.bioRxiv : the preprint server for biology · 2026Article
- A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies.American journal of human genetics · 2026Article
- Identifying drug targets for schizophrenia through gene prioritization.Translational psychiatry · 2026Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Methods integrating genetics with transcriptomic reference panels prioritize risk genes and mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance on total gene expression as a molecular outcome measure. This challenge is particularly relevant for the brain, in which extensive splicing generates multiple distinct transcript-isoforms per gene. Due to complex correlation structures, isoform-level modeling from cis-window variants requires methodological innovation. Here we introduce isoTWAS, a multivariate, stepwise framework integrating genetics, isoform-level expression and phenotypic associations. Compared to gene-level methods, isoTWAS improves both isoform and gene expression prediction, yielding more testable genes, and increased power for discovery of trait associations within genome-wide association study loci across 15 neuropsychiatric traits. We illustrate multiple isoTWAS associations undetectable at the gene-level, prioritizing isoforms of AKT3, CUL3 and HSPD1 in schizophrenia and PCLO with multiple disorders. Results highlight the importance of incorporating isoform-level resolution within integrative approaches to increase discovery of trait associations, especially for brain-relevant 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.