ReviewAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2018
The use of electronic health records for psychiatric phenotyping and genomics.
Review in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 1 of them a synthesis 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
76 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems.The American journal of psychiatry · 2019Pooled it
- Using electronic health record phenotyping to guide extraction of markers of transition to adulthood in young adults with severe chronic illness: A proposed conceptual framework.Nursing outlook · 2026Article
- Unsupervised characterization of 100,272 EHR patients identifies high-risk groups and comorbidities linked to premature aging.NPJ digital medicine · 2026Article
- Association of Genetic Liability to Psychiatric Disorders with Peripheral Metabolic Dysregulation.medRxiv : the preprint server for health sciences · 2026Article
- Artificial Intelligence in genomics: a comprehensive survey of methods, resources, challenges, and prospects.Briefings in bioinformatics · 2026Review
- Scoping review on natural language processing applications in counselling and psychotherapy.British journal of psychology (London, England : 1953) · 2026Article
- Quantifying improvement of psychotic symptoms in clozapine-treated schizophrenia: clinical note analysis with large language models.Scientific reports · 2026Article
- Large-scale automated phenotyping of cardiac arrest and withdrawal of life-sustaining therapy using electronic health record data.Resuscitation · 2026Article
- An interpretable computational phenotyping pipeline for adult autism using routine electronic health records.Frontiers in psychiatry · 2026Article
- The broad structure of psychopathology in the All of Us Research Program.Psychological medicine · 2025Article
- Large Language Models for Psychiatric Phenotype Extraction from Electronic Health Records.medRxiv : the preprint server for health sciences · 2025Article
- Genome-wide study of somatic symptom and related disorders identifies novel genomic loci and map genetic architecture.medRxiv : the preprint server for health sciences · 2025Article
- An evaluation and comparison of traumatic brain injury data sources within the VA Million Veteran Program: A descriptive epidemiological study.Journal of psychiatric research · 2025Article
- Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Article
- Polygenic Scores for Schizophrenia and Educational Attainment Predict Global Functioning Across Psychiatric Hospitalization Among People with Schizophrenia.medRxiv : the preprint server for health sciences · 2025Article
- Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research.Molecular psychiatry · 2025Review
- Considerations and Challenges When Using Clinical and Vital Record Review for Suicide Research.Journal of patient safety · 2025Article
- Defining Mental Health Conditions Within Primary Care Data: A Validation Study With a Mixed Qualitative and Quantitative Approach.Journal of evaluation in clinical practice · 2025Article
- Psychiatry in the age of AI: transforming theory, practice, and medical education.Frontiers in public health · 2025Review
- Moving beyond diagnostic labels in psychiatry: outcome-linked treatment modelling.General psychiatry · 2025Article
16 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
Abstract
The widespread adoption of electronic health record (EHRs) in healthcare systems has created a vast and continuously growing resource of clinical data and provides new opportunities for population-based research. In particular, the linking of EHRs to biospecimens and genomic data in biobanks may help address what has become a rate-limiting study for genetic research: the need for large sample sizes. The principal roadblock to capitalizing on these resources is the need to establish the validity of phenotypes extracted from the EHR. For psychiatric genetic research, this represents a particular challenge given that diagnosis is based on patient reports and clinician observations that may not be well-captured in billing codes or narrative records. This review addresses the opportunities and pitfalls in EHR-based phenotyping with a focus on their application to psychiatric genetic research. A growing number of studies have demonstrated that diagnostic algorithms with high positive predictive value can be derived from EHRs, especially when structured data are supplemented by text mining approaches. Such algorithms enable semi-automated phenotyping for large-scale case-control studies. In addition, the scale and scope of EHR databases have been used successfully to identify phenotypic subgroups and derive algorithms for longitudinal risk prediction. EHR-based genomics are particularly well-suited to rapid look-up replication of putative risk genes, studies of pleiotropy (phenomewide association studies or PheWAS), investigations of genetic networks and overlap across the phenome, and pharmacogenomic research. EHR phenotyping has been relatively under-utilized in psychiatric genomic research but may become a key component of efforts to advance precision psychiatry.
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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.