ArticleJournal of personalized medicine2022
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.
Article in Journal of personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
121 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.American journal of human genetics · 2026Pooled it
- Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes.Nature human behaviour · 2024Pooled it
- A multi-ancestry genetic study of pain intensity in 598,339 veterans.Nature medicine · 2024Pooled it
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals.Nature medicine · 2023Pooled it
- An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank.European journal of medical genetics · 2025Trial
- Implementation ofJCO precision oncology · 2025Trial
- AI-based multimodal integration of genomics and electronic health records.Nature reviews. Genetics · 2026Review
- Multi-organ imaging genetics: towards an integrated view of brain, body and brain diseases.Nature reviews. Neurology · 2026Review
- Gene-Based Rare Variant Burden Analyses Across Biobanks Identify Novel High-Risk Genes for Thoracic Aortic Disease.medRxiv : the preprint server for health sciences · 2026Article
- Novel type 1 diabetes polygenic scores improve identification of type 1 diabetes in diverse populations.medRxiv : the preprint server for health sciences · 2026Article
- A pre-train and fine-tune framework for adaptive boosting of pre-trained polygenic risk scores.Nature communications · 2026Article
- Diagnostic Disparities in Endometriosis and Adenomyosis: Investigating Social Vulnerability and Access to Care in an Ancestrally Diverse Population.Journal of minimally invasive gynecology · 2026Observational
- PMBB Geno-Pheno Toolkit: A suite of scalable, reproducible pipelines for cross-biobank association analyses.bioRxiv : the preprint server for biology · 2026Article
- Aortic Geometric Atlas: Centile-Based Reference Charts and Pathological Signatures Across the Adult Lifespan.medRxiv : the preprint server for health sciences · 2026Article
- Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026Review
- Messaging Informed by Behavioral Economics and Representativeness in Clinical Research Enrollment: Four Randomized Clinical Trials.JAMA network open · 2026Article
- Genetic Susceptibility to Incisional Hernia Evaluation of Hernia Polygenic Risk Scores.medRxiv : the preprint server for health sciences · 2026Article
- Polygenic Risk Score Predicts Prostate Cancer Risk Independent of Type 2 Diabetes.Diabetes, obesity & metabolism · 2026Article
- Genome-wide association study of coronary flow reserve assessed by cardiac perfusion PET suggests a role for NF-κB pathway.Nature cardiovascular research · 2026Article
61 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors.
Funding
Abstract
The Penn Medicine BioBank (PMBB) is an electronic health record (EHR)-linked biobank at the University of Pennsylvania (Penn Medicine). A large variety of health-related information, ranging from diagnosis codes to laboratory measurements, imaging data and lifestyle information, is integrated with genomic and biomarker data in the PMBB to facilitate discoveries and translational science. To date, 174,712 participants have been enrolled into the PMBB, including approximately 30% of participants of non-European ancestry, making it one of the most diverse medical biobanks. There is a median of seven years of longitudinal data in the EHR available on participants, who also consent to permission to recontact. Herein, we describe the operations and infrastructure of the PMBB, summarize the phenotypic architecture of the enrolled participants, and use body mass index (BMI) as a proof-of-concept quantitative phenotype for PheWAS, LabWAS, and GWAS. The major representation of African-American participants in the PMBB addresses the essential need to expand the diversity in genetic and translational research. There is a critical need for a "medical biobank consortium" to facilitate replication, increase power for rare phenotypes and variants, and promote harmonized collaboration to optimize the potential for biological discovery and precision medicine.
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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.