SynthesisBiological psychiatry2018
Genome-wide Association Study of Dimensional Psychopathology Using Electronic Health Records.
Synthesis in Biological psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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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.
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.
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Who cites it
22 citing papers in PubMed.
- Reshaping Precision Cancer Pain Management with Multimodal Artificial Intelligence: A Review on Subtyping and Treatment Response Prediction.Journal of pain research · 2026Review
- Predicting hospice eligibility among dementia patients using language models.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Dimensional Measures of Psychopathology in Children and Adolescents Using Large Language Models.Biological psychiatry · 2024Article
- Characterizing research domain criteria symptoms among psychiatric inpatients using large language models.Journal of mood and anxiety disorders · 2024Article
- Whole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes.Molecular psychiatry · 2023Article
- Leveraging Large-Scale Genetics of PTSD and Cardiovascular Disease to Demonstrate Robust Shared Risk and Improve Risk Prediction Accuracy.The American journal of psychiatry · 2022Article
- Revisiting the seven pillars of RDoC.BMC medicine · 2022Article
- The Mass General Brigham Biobank Portal: an i2b2-based data repository linking disparate and high-dimensional patient data to support multimodal analytics.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- A data-driven framework for mapping domains of human neurobiology.Nature neuroscience · 2021Article
- Advances toward precision medicine for bipolar disorder: mechanisms & molecules.Molecular psychiatry · 2021Review
- Using Language Processing and Speech Analysis for the Identification of Psychosis and Other Disorders.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2020Review
- The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities.Statistics in medicine · 2020Article
- Stratifying risk for dementia onset using large-scale electronic health record data: A retrospective cohort study.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Article
- Article
- Recent Consanguinity and Outbred Autozygosity Are Associated With Increased Risk of Late-Onset Alzheimer's Disease.Frontiers in genetics · 2020Article
- Research Domain Criteria scores estimated through natural language processing are associated with risk for suicide and accidental death.Depression and anxiety · 2019Article
- From Affective Science to Psychiatric Disorder: Ontology as a Semantic Bridge.Frontiers in psychiatry · 2018Article
- Article
- Distribution of agitation and related symptoms among hospitalized patients using a scalable natural language processing method.General hospital psychiatryArticle
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
backgroundGenetic studies of neuropsychiatric disease strongly suggest an overlap in liability. There are growing efforts to characterize these diseases dimensionally rather than categorically, but the extent to which such dimensional models correspond to biology is unknown.
methodsWe applied a newly developed natural language processing method to extract five symptom dimensions based on the National Institute of Mental Health Research Domain Criteria definitions from narrative hospital discharge notes in a large biobank. We conducted a genome-wide association study to examine whether common variants were associated with each of these dimensions as quantitative traits.
resultsAmong 4687 individuals, loci in three of five domains exceeded a genome-wide threshold for statistical significance. These included a locus spanning the neocortical development genes RFPL3 and RFPL3S for arousal (p = 2.29 × 10
conclusionsNatural language processing identifies dimensional phenotypes that may facilitate the discovery of common genetic variation that is relevant to psychopathology.
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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.