ArticleGenome biology2020
PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins.
Article in Genome biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.
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Who cites it
79 citing papers in PubMed.
- AI-based multimodal integration of genomics and electronic health records.Nature reviews. Genetics · 2026Review
- Integrating Proteome-Wide Association Studies and Single-Cell Transcriptomics Identifies GSTT2B as a Causal Mediator and Prioritizes COL4A1 in Diabetic Retinopathy.International journal of molecular sciences · 2026Article
- Polygenic risk scores associate with asthma phenotypes and proteomic analyses implicate IL1R1 in two family-based studies.medRxiv : the preprint server for health sciences · 2026Article
- Proteome-wide genetic study identified therapeutic targets for early-onset and late-onset Alzheimer's disease.International journal of surgery (London, England) · 2026Article
- Integrative omics analysis incorporating cardiovascular magnetic resonance imaging pinpoints potentially druggable plasma proteins for cardiovascular diseases.Life metabolism · 2026Article
- A trans-omics gene-smoking interaction study of lung cancer based on consortium data.American journal of respiratory and critical care medicine · 2026Article
- Integrative multi-omics identifiesPsychological medicine · 2026Article
- Cell-type-aware transcriptome-wide association studies identify 91 independent risk genes for Alzheimer's disease dementia.Communications biology · 2026Article
- Integrative machine learning approach to risk prediction for dementia and Alzheimer's disease.GeroScience · 2026Article
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- EffectorFisher: association of disease phenotype with pangenomic protein-isoform profiles for improved prediction of fungal pathogenicity effectors.Scientific reports · 2026Article
- MKRN1 as a prioritized drug target for postpartum depression: evidence from druggable proteome profiling and multi-layer validation.Translational psychiatry · 2026Article
- A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies.American journal of human genetics · 2026Article
- Integrating human plasma proteomes with genome-wide association data implicates novel proteins and drug targets for rheumatoid arthritis.Clinical proteomics · 2026Article
- Cross-ancestry information transfer framework improves protein abundance prediction and protein-trait association identification.Briefings in bioinformatics · 2026Article
- Modern genomic and omics-based technologies for millet breeding and genetic improvement.Frontiers in plant science · 2026Review
- Integrative Gene-Centric Analysis Reveals Cellular Pathways Associated with Heritable Breast Cancer Predisposition.Cancers · 2025Article
- Co-expression-wide association studies link genetically regulated interactions with complex traits.Nature communications · 2025Article
- Learning image derived PDE-phenotypes from fMRI data.Brain informatics · 2025Article
- Integrative multi-omics approaches identify molecular pathways and improve Alzheimer's disease risk prediction.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We introduce Proteome-Wide Association Study (PWAS), a new method for detecting gene-phenotype associations mediated by protein function alterations. PWAS aggregates the signal of all variants jointly affecting a protein-coding gene and assesses their overall impact on the protein's function using machine learning and probabilistic models. Subsequently, it tests whether the gene exhibits functional variability between individuals that correlates with the phenotype of interest. PWAS can capture complex modes of heritability, including recessive inheritance. A comparison with GWAS and other existing methods proves its capacity to recover causal protein-coding genes and highlight new associations. PWAS is available as a command-line tool.
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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 OpenQuestion graph.