ArticleNature genetics2020
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements.
Article in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers, 5 of them syntheses that pooled it.
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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
111 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Association between polygenic risk for Major Depression and brain structure in a mega-analysis of 50,975 participants across 11 studies.Molecular psychiatry · 2026Pooled it
- GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region.Nature communications · 2024Pooled it
- Androgen receptor binding sites enabling genetic prediction of mortality due to prostate cancer in cancer-free subjects.Nature communications · 2023Pooled it
- Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.Nature genetics · 2022Pooled it
- Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.Nature genetics · 2022Pooled it
- Estimating genetic correlation jointly using individual-level and summary-level GWAS data.Nature communications · 2026Article
- Genetic Ancestry and Colorectal Cancer in the All of Us Dataset.JAMA network open · 2026Article
- MIXPRS enables multi-population and multi-method polygenic risk scores using summary statistics.Nature genetics · 2026Article
- Fine-mapping candidate neuropsychiatric regulatory variants using cell type-aware comparative genomics.bioRxiv : the preprint server for biology · 2026Article
- Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Tissue-specific transfer learning improves functional variant and therapeutic target discoveries in breast and prostate cancer.PLoS genetics · 2026Article
- Single-cell polygenic risk scores dissect cellular and molecular heterogeneity of complex human diseases.Nature biotechnology · 2026Article
- Predictive performance of breast cancer polygenic risk scores from diverse ancestries: a prospective study in Japanese women.Breast cancer research : BCR · 2026Article
- Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population.Journal of human genetics · 2026Article
- Representation in genetic studies affects inference about genetic architecture.bioRxiv : the preprint server for biology · 2026Article
- Review
- Cross-Ancestry Polygenic Prediction: Comparing Methods and Assessing Transferability Across Traits.Genetic epidemiology · 2026Article
- Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements.iScience · 2026Review
- Alzheimer's disease: genetic background in the era of next-generation sequencing technologies.Brain communications · 2026Review
51 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors.
Funding
Abstract
Poor trans-ancestry portability of polygenic risk scores is a consequence of Eurocentric genetic studies and limited knowledge of shared causal variants. Leveraging regulatory annotations may improve portability by prioritizing functional over tagging variants. We constructed a resource of 707 cell-type-specific IMPACT regulatory annotations by aggregating 5,345 epigenetic datasets to predict binding patterns of 142 transcription factors across 245 cell types. We then partitioned the common SNP heritability of 111 genome-wide association study summary statistics of European (average n ≈ 189,000) and East Asian (average n ≈ 157,000) origin. IMPACT annotations captured consistent SNP heritability between populations, suggesting prioritization of shared functional variants. Variant prioritization using IMPACT resulted in increased trans-ancestry portability of polygenic risk scores from Europeans to East Asians across all 21 phenotypes analyzed (49.9% mean relative increase in R
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