ReviewNature reviews. Genetics2011
Using electronic health records to drive discovery in disease genomics.
Review in Nature reviews. Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 183 papers, 3 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
183 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.Human mutation · 2021Pooled it
- Phenome-wide association studies across large population cohorts support drug target validation.Nature communications · 2018Pooled it
- An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders.Biological psychiatry · 2015Pooled it
- Trial
- Improving case definition of Crohn's disease and ulcerative colitis in electronic medical records using natural language processing: a novel informatics approach.Inflammatory bowel diseases · 2013Trial
- Trial
- Liability threshold model-based disease risk prediction based on electronic health record phenotypes.Nature genetics · 2025Article
- DOME: Directional medical embedding vectors from Electronic Health Records.Journal of biomedical informatics · 2025Article
- Multisource representation learning for pediatric knowledge extraction from electronic health records.NPJ digital medicine · 2024Article
- It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine.JMIR bioinformatics and biotechnology · 2024Article
- A novel method for multiple phenotype association studies based on genotype and phenotype network.PLoS genetics · 2024Article
- Evaluating Large Language Models in Extracting Cognitive Exam Dates and Scores.medRxiv : the preprint server for health sciences · 2024Article
- Optimal and Safe Estimation for High-Dimensional Semi-Supervised Learning.Journal of the American Statistical Association · 2024Article
- Data-driven, cross-disciplinary collaboration: lessons learned at the largest academic health center in Latin America during the COVID-19 pandemic.Frontiers in public health · 2024Article
- Phenomics and Robust Multiomics Data for Cardiovascular Disease Subtyping.Arteriosclerosis, thrombosis, and vascular biology · 2023Review
- Evaluating resources composing the PheMAP knowledge base to enhance high-throughput phenotyping.Journal of the American Medical Informatics Association : JAMIA · 2023Article
- Analytics to monitor local impact of the Protecting Access to Medicare Act's imaging clinical decision support requirements.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- Efficient Evaluation of Prediction Rules in Semi-Supervised Settings under Stratified Sampling.Journal of the Royal Statistical Society. Series B, Statistical methodology · 2022Article
- A nationwide registry for recurrent urolithiasis in the upper urinary tract - The RECUR study protocol.BMC health services research · 2022Article
- Article
123 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
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
If genomic studies are to be a clinically relevant and timely reflection of the relationship between genetics and health status--whether for common or rare variants--cost-effective ways must be found to measure both the genetic variation and the phenotypic characteristics of large populations, including the comprehensive and up-to-date record of their medical treatment. The adoption of electronic health records, used by clinicians to document clinical care, is becoming widespread and recent studies demonstrate that they can be effectively employed for genetic studies using the informational and biological 'by-products' of health-care delivery while maintaining patient privacy.
Indexed as
Identifiers
21587298What OpenQuestion holds
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.