ArticleScience (New York, N.Y.)2018
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Abstract read
In one paragraph
Article in Science (New York, N.Y.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
121citing papers in PubMed, 2 pooled it
23.3field-weighted citation impact, top 1% of its field
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, 2 syntheses or guidelines pooled it, 238 citations in OpenAlex.
- Pooled it
- A systematic literature review of individuals' perspectives on privacy and genetic information in the United States.PloS one · 2018Pooled it
- The genetic architecture of fibromyalgia across 2.5 million individuals.Nature medicine · 2026Article
- Embeddings of clinical codes enable knowledge-grounded AI in medicine.NPJ digital medicine · 2026Article
- Interpretable fine-tuned large language models facilitate making genetic test decisions for rare diseases.NPJ digital medicine · 2026Article
- Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting.The Journal of allergy and clinical immunology · 2026Article
- Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.Scientific reports · 2026Article
- Developing a phenotype risk score formedRxiv : the preprint server for health sciences · 2026Article
- Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks.American journal of human genetics · 2025Article
- PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.PLoS genetics · 2025Article
- Challenges and Opportunities in Characterizing the Genetics of Stuttering: From Sample Acquisition to Functional Interpretation of the Genome.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Development of a genetic priority score to predict drug side effects using human genetic evidence.Nature communications · 2025Article
- Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores.Nature genetics · 2025Article
- Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.JAMA internal medicine · 2025Article
- Decoding Immunodeficiencies with Artificial Intelligence: A New Era of Precision Medicine.Biomedicines · 2025Review
- Structural and molecular basis of PCNA-activated FAN1 nuclease function in DNA repair.Nature communications · 2025Article
- Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.American journal of human genetics · 2025Article
- Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease.Orphanet journal of rare diseases · 2025Review
- Genetic association studies using disease liabilities from deep neural networks.American journal of human genetics · 2025Article
- Artificial intelligence in clinical genetics.European journal of human genetics : EJHG · 2025Review
61 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
27 authors at 3 institutions in 1 country.
Lisa BastaracheDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-3020-447X
Jacob J HugheyDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-1558-6089
Scott HebbringCenter for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI, USA.
Joy MarloDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-4217-7344
Wanke ZhaoDepartment of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Wanting T HoDepartment of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Sara L Van DriestDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-2580-1405
Tracy L McGregorDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Jonathan D MosleyDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-6421-2887
Quinn S WellsDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-3899-0313
Michael TempleDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Andrea H RamirezDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-6460-0182
Robert CarrollDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-3802-8183
Travis OstermanDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Todd EdwardsDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-4318-6119
Douglas RuderferDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-2365-386X
Digna R Velez EdwardsDepartment of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-5293-0056
Rizwan HamidDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
Joy CoganDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-8106-1216
Andrew GlazerDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-3938-4713
Wei-Qi WeiDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-4985-056X
QiPing FengDepartment of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-6213-793X
Murray BrilliantCenter for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI, USA.
Zhizhuang J ZhaoDepartment of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Nancy J CoxDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-9315-0830
Dan M RodenDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-6302-0389
Joshua C DennyDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA. josh.denny@vanderbilt.edu.ORCID 0000-0002-3049-7332
Vanderbilt University Medical Center · USUniversity of Oklahoma Health Sciences Center · USMarshfield Clinic · US
Funding
Vanderbilt Institute for Clinical and Translational Research (VICTR) -Identifying correlates of functional immunity in SARS-CoV-2 convalescent plasmaUL1TR002243 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Paul A. Harris, Wesley H Self · 2017 to 2026
$130.7MVANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7MThe Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4MResearch Training for Computation and Informatics in Biology and MedicineT15LM007359 · NLM · UNIVERSITY OF WISCONSIN-MADISON · PI Mark W. Craven, Colin Noel Dewey · 2002 to 2026
$22.6MVanderbilt Biomedical Informatics Training ProgramT15LM007450 · NLM · VANDERBILT UNIVERSITY · PI Jessica S. Ancker, Bradley A. Malin · 2002 to 2026
$19.7MVanderbilt Center for Undiagnosed Diseases (VCUD) - BiorepositoryU01HG007674 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COGAN, JOY D, HAMID, RIZWAN · 2014 to 2022
$13.7MUnderstanding and preventing HLA-associated drug reactionsP50GM115305 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C. · 2015 to 2019
$13.0MVanderbilt Genome-Electronic Records ProjectU01HG004603 · NHGRI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2007 to 2011
$7.3MThe Electronic Medical Records and Genomics (eMERGE) Network Phase III Coordinating Center (U01)U01HG008701 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI PETERSON, JOSEPH F. · 2015 to 2019
$7.1MFrom GWAS to PheWAS: Scanning the EMR Phenome for Gene-disease AssociationsR01LM010685 · NLM · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BASTARACHE, LISA · 2011 to 2022
$6.3MVGER, the Vanderbilt Genome-Electronic Records ProjectU01HG008672 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C., RODEN, DAN M · 2015 to 2019
$5.1MAnalysis, Validation and Resource Creation for Genome Sequencing of Complex DiseasesU01HG009086 · NHGRI · VANDERBILT UNIVERSITY · PI COX, NANCY J, LI, BINGSHAN · 2016 to 2020
$4.3MAmerican Heart Association-American Stroke Association 16FTF30130005NCATS NIH HHS UL1 TR000445NCATS NIH HHS UL1 TR002243NCRR NIH HHS UL1 RR024975NHGRI NIH HHS T32 HG008341NHGRI NIH HHS U01 HG004603NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01 HG007674NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008701NHGRI NIH HHS U01 HG009086NHLBI NIH HHS F32 HL137385NHLBI NIH HHS R01 HL133786NHLBI NIH HHS R01 HL136748NHLBI NIH HHS R01 HL140074NIGMS NIH HHS P50 GM115305NIGMS NIH HHS R01 GM114128NIGMS NIH HHS R01 GM120523NIH HHS S10 OD023475NIMH NIH HHS R01 MH113362NLM NIH HHS R01 LM010685NLM NIH HHS T15 LM007359NLM NIH HHS T15 LM007450
Abstract
Genetic association studies often examine features independently, potentially missing subpopulations with multiple phenotypes that share a single cause. We describe an approach that aggregates phenotypes on the basis of patterns described by Mendelian diseases. We mapped the clinical features of 1204 Mendelian diseases into phenotypes captured from the electronic health record (EHR) and summarized this evidence as phenotype risk scores (PheRSs). In an initial validation, PheRS distinguished cases and controls of five Mendelian diseases. Applying PheRS to 21,701 genotyped individuals uncovered 18 associations between rare variants and phenotypes consistent with Mendelian diseases. In 16 patients, the rare genetic variants were associated with severe outcomes such as organ transplants. PheRS can augment rare-variant interpretation and may identify subsets of patients with distinct genetic causes for common diseases.
Indexed as
Genetic Predisposition to DiseaseDatabases, GeneticDNA Mutational AnalysisElectronic Health RecordsExomeGenetic Association StudiesGenetic Diseases, InbornGenetic VariationHumansPhenotypeRisk Factors
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
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.