ArticleNature medicine2021
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
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In one paragraph
Article in Nature medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 2 pooled it
9.0field-weighted citation impact, top 2% of its field
What it found
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Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
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- Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.Nature communications · 2022Pooled it
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- Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.Nature communications · 2026Article
- G4mer: An RNA language model for transcriptome-wide identification of G-quadruplexes and disease variants from population-scale genetic data.Nature communications · 2025Article
- Relationship between genotype and clinical phenotype of hypertrophic cardiomyopathy.World journal of cardiology · 2025Review
- Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.American journal of human genetics · 2025Article
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- A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.Nature communications · 2025Article
- A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.NPJ Parkinson's disease · 2025Article
- Structural framework to address variant-gene relationship in primary open-angle glaucoma.Vision research · 2025Review
- TEX10: A Novel Drug Target and Potential Therapeutic Direction for Sleep Apnea Syndrome.Nature and science of sleep · 2025Article
- Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Article
- Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.medRxiv : the preprint server for health sciences · 2024Article
- Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.Investigative ophthalmology & visual science · 2024Observational
- Exome sequencing of UK birth cohorts.Wellcome open research · 2024Article
- A deep catalog of protein-coding variation in 985,830 individuals.bioRxiv : the preprint server for biology · 2023Article
- Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.American journal of medical genetics. Part A · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
41 authors at 9 institutions in 1 country.
Joseph ParkDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-3313-641X
Anastasia M LucasDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Xinyuan ZhangDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-8885-1146
Kumardeep ChaudharyThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Judy H ChoThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-7959-0466
Girish NadkarniThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Amanda DobbynThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Geetha ChittoorDepartment of Population Health Sciences, Geisinger, Danville, PA, USA.ORCID http://orcid.org/0000-0001-6443-6012
Navya S JosyulaDepartment of Population Health Sciences, Geisinger, Danville, PA, USA.ORCID http://orcid.org/0000-0003-2782-8812
Nathan KatzDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Joseph H BreeyearVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-6179-0515
Shadi AhmadmehrabiDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Theodore G DrivasDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-8717-0111
Venkata R M ChavaliScheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Maria FasolinoDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Hisashi SawadaSaha Cardiovascular Research Center, University of Kentucky, Lexington, KY, USA.ORCID http://orcid.org/0000-0003-0017-6236
Alan DaughertySaha Cardiovascular Research Center, University of Kentucky, Lexington, KY, USA.
Yanming LiDivision of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-8213-9166
Chen ZhangDivision of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.
Yuki BradfordDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
JoEllen WeaverInstitute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Anurag VermaDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Renae L JudyDepartment of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Rachel L KemberDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
John D OvertonRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Jeffrey G ReidRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-8645-4713
Manuel A R FerreiraRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Alexander H LiRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Aris BarasRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-6830-3396
Scott A LeMaireDivision of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.
Ying H ShenDivision of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX, USA.
Ali NajiDepartment of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-6926-3306
Klaus H KaestnerDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Golnaz VahediDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Todd L EdwardsVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-4318-6119
Jinbo ChenDepartment of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Scott M DamrauerDepartment of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Anne E JusticeDepartment of Population Health Sciences, Geisinger, Danville, PA, USA.
Ron DoThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-3144-3627
Marylyn D RitchieDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-1208-1720
Daniel J RaderDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. rader@pennmedicine.upenn.edu.ORCID http://orcid.org/0000-0002-9245-9876
University of Pennsylvania · USIcahn School of Medicine at Mount Sinai · USRegeneron (United States) · USBaylor College of Medicine · USGeisinger Health System · USTranslational Therapeutics (United States) · USUniversity of Kentucky · USVanderbilt University Medical Center · USPenn Presbyterian Medical Center · US
Funding
Phenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4MMEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7MMitochondrial Damage-Induced Necroptotic Cell Death in SporadicAscending Thoracic Aortic Aneurysms and DissectionsR01HL143359 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI LEMAIRE, SCOTT A, SHEN, YING H · 2018 to 2021
$1.6MDeciphering the role of lipid metabolism pathways in the RPE and their implications for AMDR21EY028273 · NEI · UNIVERSITY OF PENNSYLVANIA · PI CHAVALI, VENKATA RAMANA MURTHY · 2018 to 2019
$443kInvestigating the clinical ontologies of loss-of-function and gain-of-function human gene variantsF30HG010442 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI PARK, JOSEPH · 2018 to 2022
$134kAmerican Heart Association (American Heart Association, Inc.) 18SFRN33960114American Heart Association (American Heart Association, Inc.) 18SFRN33960163CSRD VA IK2 CX001780Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NCATS NIH HHS UL1 TR001878NEI NIH HHS R21 EY028273NHGRI NIH HHS F30 HG010442NHLBI NIH HHS R01 HL143359NIGMS NIH HHS T32 GM008638U.S. Department of Health & Human Services | National Institutes of Health (NIH) 1R01HL143359U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences (NCATS) UL1TR001878U.S. Department of Health & Human Services | NIH | National Eye Institute (NEI) R21EY028273-01A1U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) F30HG010442
Abstract
The clinical impact of rare loss-of-function variants has yet to be determined for most genes. Integration of DNA sequencing data with electronic health records (EHRs) could enhance our understanding of the contribution of rare genetic variation to human disease
Indexed as
Electronic Health RecordsExomeGenotypePhenotypeAgedComputational BiologyExome SequencingFemaleGenome-Wide Association StudyHumansMalePolymorphism, Single Nucleotide
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