ArticleScience (New York, N.Y.)2021
Sequencing of 640,000 exomes identifies
Open access · hybridAbstract read
In one paragraph
Article in Science (New York, N.Y.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 186 papers, 6 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
186citing papers in PubMed, 6 pooled it
28.8field-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
186 citing papers in PubMed, 6 syntheses or guidelines pooled it, 262 citations in OpenAlex.
- Empirically determined baseline masking strategies and other considerations for gene-level burden tests.Nature genetics · 2026Pooled it
- Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies.Nature genetics · 2025Pooled it
- Discovery of obesity genes through cross-ancestry analysis.Nature communications · 2025Pooled it
- Missense variants in FRS3 affect body mass index in populations of diverse ancestries.Nature communications · 2025Pooled it
- Pooled it
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- A GIPR antagonist conjugated to GLP-1 analogues promotes weight loss with improved metabolic parameters in preclinical and phase 1 settings.Nature metabolism · 2024Trial
- Hepatic GPR75 exacerbates MASH through GNAI2-dependent signaling.Hepatology (Baltimore, Md.) · 2026Article
- Multi-organ imaging genetics: towards an integrated view of brain, body and brain diseases.Nature reviews. Neurology · 2026Review
- Human Genetics of Adipose Dysfunction: Genomic Mechanisms and Therapeutic Opportunities in Cardiometabolic Disease.Arteriosclerosis, thrombosis, and vascular biology · 2026Review
- Big data and psychiatry: advances, constraints and future directions.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026Article
- One million exomes identify FNIP1 as a metabolic brake.Trends in genetics : TIG · 2026Article
- AlphaGenome Atlas:medRxiv : the preprint server for health sciences · 2026Article
- Glycemic and bodyweight effects ofScience advances · 2026Article
- Article
- G protein-coupled receptor 75 mediates depression-like behaviors and HPA axis hyperactivity through an excitatory arcuate-paraventricular nucleus circuit.Acta pharmacologica Sinica · 2026Article
- Review
- The evolving landscape of obesity pharmacotherapy.Nature reviews. Drug discovery · 2026Review
- Using Combined Fluorescent In Situ Hybridization With Immunohistochemistry to Co-localize mRNA in Diverse Neuronal Cell Types.Bio-protocol · 2026Article
- Recent developments in GPCR signalling in appetite regulation.Bioscience reports · 2026Review
126 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
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Authors and funding
62 authors at 10 institutions in 4 countries.
Parsa Akbari *Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0001-9210-4760
Ankit Gilani *Department of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.ORCID 0000-0002-5100-0110
Olukayode Sosina *Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0003-2120-0338
Jack A KosmickiRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0003-1252-6192
Lori KhrimianRegeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0002-9031-290X
Yi-Ya FangRegeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Trikaldarshi PersaudRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0002-3236-9932
Victor GarciaDepartment of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.ORCID 0000-0002-1849-8834
Dylan SunRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0002-5542-4383
Alexander LiRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0003-0057-7515
Joelle MbatchouRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Adam E LockeRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0001-6227-198X
Christian BennerRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Niek VerweijRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0002-4303-7685
Nan LinRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Sakib HossainDepartment of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.
Kevin AgostinucciDepartment of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.
Jonathan V PascaleDepartment of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.ORCID 0000-0003-2058-8625
Ercument DiriceDepartment of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.ORCID 0000-0003-2792-7204
Michael DunnRegeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Regeneron Genetics Center
DiscovEHR Collaboration
William E KrausDivision of Cardiology, Duke University Medical Center, Durham, NC 27710, USA.ORCID 0000-0003-1930-9684
Svati H ShahDepartment of Medicine, Duke University Medical Center, Durham, NC 27710, USA.
Yii-Der I ChenInstitute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation, and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Jerome I RotterInstitute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation, and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.ORCID 0000-0001-7191-1723
Daniel J RaderDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, PA 19104, USA.ORCID 0000-0002-9245-9876
Olle MelanderDepartment of Clinical Sciences Malmö, Lund University, 221 00 Malmö, Sweden.
Christopher D StillGeisinger Obesity Institute, Geisinger Health System, Danville, PA 17882, USA.ORCID 0000-0001-8006-8483
Tooraj MirshahiGeisinger Obesity Institute, Geisinger Health System, Danville, PA 17882, USA.ORCID 0000-0002-0754-3820
David J CareyGeisinger Obesity Institute, Geisinger Health System, Danville, PA 17882, USA.ORCID 0000-0001-6404-1950
Jaime Berumen-CamposFaculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, 4360 Ciudad de México, Mexico.ORCID 0000-0001-6707-3317
Pablo Kuri-MoralesFaculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, 4360 Ciudad de México, Mexico.ORCID 0000-0002-0704-9507
Jesus Alegre-DíazFaculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, 4360 Ciudad de México, Mexico.ORCID 0000-0001-9390-3871
Jason M TorresNuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, England, UK.ORCID 0000-0002-7537-7035
Jonathan R EmbersonNuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, England, UK.ORCID 0000-0001-7792-9422
Rory CollinsNuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, England, UK.ORCID 0000-0001-8288-8602
Suganthi BalasubramanianRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0003-2243-5948
Alicia HawesRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Marcus JonesRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Brian ZambrowiczRegeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0001-8831-0406
Andrew J MurphyRegeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0003-4152-4081
Charles PauldingRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0002-7918-3561
Giovanni CoppolaRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0003-2105-1061
John D OvertonRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0001-7650-8634
Jeffrey G ReidRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0001-8645-4713
Alan R ShuldinerRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0001-9921-4305
Michael CantorRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Hyun M KangRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0002-3631-3979
Goncalo R AbecasisRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Katia KaralisRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Aris N EconomidesRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0002-6508-8942
Jonathan MarchiniRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0003-0610-8322
George D YancopoulosRegeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Mark W SleemanRegeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Judith AltarejosRegeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Giusy Della GattaRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.ORCID 0000-0001-5888-6287
Roberto Tapia-Conyer *Faculty of Medicine, National Autonomous University of Mexico, Copilco Universidad, Coyoacán, 4360 Ciudad de México, Mexico.ORCID 0000-0003-3814-2904
Michal L Schwartzman *Department of Pharmacology and Medicine, New York Medical College School of Medicine, Valhalla, NY 10595, USA.
Aris Baras *Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA. luca.lotta@regeneron.com aris.baras@regeneron.com.
Manuel A R Ferreira *Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Luca A Lotta *Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA. luca.lotta@regeneron.com aris.baras@regeneron.com.ORCID 0000-0002-2619-5956
Regeneron (United States) · USNew York Medical College · USUniversidad Nacional Autónoma de México · MXGeisinger Health System · USUniversity of Oxford · GBUCLA Medical Center · USDuke Medical Center · USDuke University · USMalmö University · SEUniversity of Pennsylvania · US
Funding
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4MVasoregulatory Function of CYP2E1-Derived EicosanoidsP01HL034300 · NHLBI · NEW YORK MEDICAL COLLEGE · PI JIANG, HOULI · 1985 to 2015
$33.4MMolecular Mechanisms of 20-HETE-mediated Vascular Dysfunction and HypertensionR01HL139793 · NHLBI · NEW YORK MEDICAL COLLEGE · PI SCHWARTZMAN, MICHAL LANIADO · 2018 to 2021
$2.7MMedical Research Council MC_QA137853Medical Research Council MC_UU_00017/2NCATS NIH HHS UL1 TR001881NHLBI NIH HHS P01 HL034300NHLBI NIH HHS R01 HL139793NIDDK NIH HHS P30 DK063491Wellcome Trust
Abstract
Large-scale human exome sequencing can identify rare protein-coding variants with a large impact on complex traits such as body adiposity. We sequenced the exomes of 645,626 individuals from the United Kingdom, the United States, and Mexico and estimated associations of rare coding variants with body mass index (BMI). We identified 16 genes with an exome-wide significant association with BMI, including those encoding five brain-expressed G protein-coupled receptors (
Indexed as
Body Mass IndexAnimalsExomeGenetic VariationHumansMiceMice, KnockoutObesityReceptors, G-Protein-CoupledSequence Analysis, DNAWeight GainGPR75 protein, humanReceptors, G-Protein-Coupled
Identifiers
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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.