ArticleAmerican journal of human genetics2023
The phenotype-genotype reference map: Improving biobank data science through replication.
Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Can Psychiatric Genetics Advance Without Incorporating a Life Course Perspective?Biological psychiatry · 2026Review
- Inclusion bias affects common variant discovery and replication in a health-system linked biobank.American journal of human genetics · 2026Article
- Robust replication of associations across patient-mediated and provider-sourced EHR data in thenpj digital public health · 2026Article
- Article
- Deep phenotyping of heart failure with preserved ejection fraction through multi-omics integration.European journal of heart failure · 2025Article
- Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare.medRxiv : the preprint server for health sciences · 2025Article
- Multi-domain rule-based phenotyping algorithms enable improved GWAS signal.NPJ digital medicine · 2025Article
- Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.JAMA internal medicine · 2025Article
- Illuminating the landscape of high-level clinical trial opportunities in the All of Us Research Program.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Integrating Electronic Health Records and Polygenic Risk to Identify Genetically Unrelated Comorbidities of Schizophrenia That May Be Modifiable.Biological psychiatry global open science · 2024Article
- Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Genomic data in the All of Us Research Program.Nature · 2024Article
- Proceedings from the inaugural Artificial Intelligence in Primary Immune Deficiencies (AIPID) conference.The Journal of allergy and clinical immunology · 2024Article
- Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.Bioinformatics (Oxford, England) · 2023Article
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Authors and funding
13 authors.
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Abstract
Population-scale biobanks linked to electronic health record data provide vast opportunities to extend our knowledge of human genetics and discover new phenotype-genotype associations. Given their dense phenotype data, biobanks can also facilitate replication studies on a phenome-wide scale. Here, we introduce the phenotype-genotype reference map (PGRM), a set of 5,879 genetic associations from 523 GWAS publications that can be used for high-throughput replication experiments. PGRM phenotypes are standardized as phecodes, ensuring interoperability between biobanks. We applied the PGRM to five ancestry-specific cohorts from four independent biobanks and found evidence of robust replications across a wide array of phenotypes. We show how the PGRM can be used to detect data corruption and to empirically assess parameters for phenome-wide studies. Finally, we use the PGRM to explore factors associated with replicability of GWAS results.
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