ArticleTranslational psychiatry2018
Genetic validation of bipolar disorder identified by automated phenotyping using electronic health records.
Article in Translational psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.Nature genetics · 2022Pooled it
- The broad structure of psychopathology in the All of Us Research Program.Psychological medicine · 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
- Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree.BMC psychiatry · 2025Article
- Algorithms for the identification of prevalent diabetes in the All of Us Research Program validated using polygenic scores.Scientific reports · 2024Article
- Semi-supervised ROC analysis for reliable and streamlined evaluation of phenotyping algorithms.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Development and multi-site external validation of a generalizable risk prediction model for bipolar disorder.Translational psychiatry · 2024Observational
- Trends and opportunities in computable clinical phenotyping: A scoping review.Journal of biomedical informatics · 2023Article
- Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS.Annual review of biomedical data science · 2021Review
- The Role of Genetics in Bipolar Disorder.Current topics in behavioral neurosciences · 2021Article
- Automated Phenotyping Tool for Identifying Developmental Language Disorder Cases in Health Systems Data (APT-DLD): A New Research Algorithm for Deployment in Large-Scale Electronic Health Record Systems.Journal of speech, language, and hearing research : JSLHR · 2020Article
- Defining Major Depressive Disorder Cohorts Using the EHR: Multiple Phenotypes Based on ICD-9 Codes and Medication Orders.Neurology, psychiatry, and brain research · 2020Article
- Diagnostic Algorithms to Study Post-Concussion Syndrome Using Electronic Health Records: Validating a Method to Capture an Important Patient Population.Journal of neurotrauma · 2019Article
- Electronic Health Records Are the Next Frontier for the Genetics of Substance Use Disorders.Trends in genetics : TIG · 2019Article
- Using whole genome scores to compare three clinical phenotyping methods in complex diseases.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
17 authors at 11 institutions in 3 countries.
Funding
Abstract
Bipolar disorder (BD) is a heritable mood disorder characterized by episodes of mania and depression. Although genomewide association studies (GWAS) have successfully identified genetic loci contributing to BD risk, sample size has become a rate-limiting obstacle to genetic discovery. Electronic health records (EHRs) represent a vast but relatively untapped resource for high-throughput phenotyping. As part of the International Cohort Collection for Bipolar Disorder (ICCBD), we previously validated automated EHR-based phenotyping algorithms for BD against in-person diagnostic interviews (Castro et al. Am J Psychiatry 172:363-372, 2015). Here, we establish the genetic validity of these phenotypes by determining their genetic correlation with traditionally ascertained samples. Case and control algorithms were derived from structured and narrative text in the Partners Healthcare system comprising more than 4.6 million patients over 20 years. Genomewide genotype data for 3330 BD cases and 3952 controls of European ancestry were used to estimate SNP-based heritability (h
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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.