Evidence map›Paper›PMID 38671320›Full record

SynthesisNature genetics2024

Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.

Mark P Purdue, Diptavo Dutta, Mitchell J Machiela, Bryan R Gorman, Timothy Winter, Dayne Okuhara, Sara Cleland, Aida Ferreiro-Iglesias, Paul Scheet, Aoxing Liu and 124 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 2 pooled it
23.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

134 authors at 20 institutions in 15 countries.

Mark P Purdue *Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA. purduem@mail.nih.gov.ORCID http://orcid.org/0000-0003-1177-3108
Diptavo Dutta *Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID http://orcid.org/0000-0002-6634-9040
Mitchell J Machiela *Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Bryan R Gorman *Booz Allen Hamilton Inc, McLean, VA, USA.ORCID http://orcid.org/0000-0002-4239-4672
Timothy WinterLaboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID http://orcid.org/0000-0002-5236-205X
Dayne OkuharaBooz Allen Hamilton Inc, McLean, VA, USA.
Sara ClelandBooz Allen Hamilton Inc, McLean, VA, USA.
Aida Ferreiro-IglesiasGenomic Epidemiology Branch, International Agency for Research on Cancer, Lyon, France.
Paul ScheetDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.ORCID http://orcid.org/0000-0002-5173-7497
Aoxing LiuInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-9155-1494
Chao WuBiosample Repository, Fox Chase Cancer Center-Temple Health, Philadelphia, PA, USA.
Samuel O AntwiDepartment of Quantitative Health Sciences, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0003-2372-9489
James LarkinDepartment of Medical Oncology, Royal Marsden NHS Foundation Trust, London, UK.
Stênio C ZequiDepartment of Urology, A.C. Camargo Cancer Center, São Paulo, Brazil.
Maxine SunDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Keiko HikinoLaboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-4852-2401
Ali HajiranDepartment of Urology, Division of Urologic Oncology, West Virginia University Cancer Institute, Morgantown, WV, USA.
Keith A LawsonDepartment of Surgical Oncology, Division of Urology, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Flavio CárcanoDepartment of Medical Oncology, Barretos Cancer Hospital, Barretos, Brazil.ORCID http://orcid.org/0000-0002-0002-3507
Odile BlanchetBiobank Resource Centre, CHU Angers, Angers, France.ORCID http://orcid.org/0000-0002-8275-8741
Brian ShuchDepartment of Urology, UCLA Jonsson Comprehensive Cancer Center, Los Angeles, CA, USA.
Kenneth G NeppleDepartment of Urology, Holden Comprehensive Cancer Center, University of Iowa, Iowa City, IA, USA.
Gaëlle MargueDepartment of Urology, CHU Bordeaux, Bordeaux, France.
Debasish SundiDepartment of Urology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
W Ryan DiverDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.ORCID http://orcid.org/0000-0002-5418-9000
Maria A A K FolgueiraDepartments of Radiology and Oncology, Comprehensive Center for Precision Oncology-C2PO, Centro de Investigação Translacional em Oncologia, Instituto do Cancer do Estado de São Paulo, Hospital das Clinicas, Faculdade de Medicina Universidade de São Paulo, São Paulo, Brazil.
Adrie van BokhovenDepartment of Pathology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Florencia NeffaTumor Bank, Hospital Militar, Montevideo, Uruguay.ORCID http://orcid.org/0000-0003-4534-5507
Kevin M BrownLaboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Jonathan N HofmannOccupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID http://orcid.org/0000-0002-1043-5812
Jongeun RheeOccupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Meredith YeagerCancer Genomics Research Laboratory, Frederick National Laboratory, Rockville, MD, USA.
Nathan R ColeCancer Genomics Research Laboratory, Frederick National Laboratory, Rockville, MD, USA.
Belynda D HicksCancer Genomics Research Laboratory, Frederick National Laboratory, Rockville, MD, USA.
Michelle R ManningCancer Genomics Research Laboratory, Frederick National Laboratory, Rockville, MD, USA.
Amy A HutchinsonCancer Genomics Research Laboratory, Frederick National Laboratory, Rockville, MD, USA.
Nathaniel RothmanOccupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Wen-Yi HuangMetabolic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID http://orcid.org/0000-0002-4440-3368
W Marston LinehanUrologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-7983-3109
Adriana LoriDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Matthieu FerraguDepartment of Urology, CHU Angers, Angers, France.
Merzouka Zidane-MarinnesDepartment of Pathology, CHU Angers, Angers, France.
Sérgio V SerranoDepartment of Medical Oncology, Barretos Cancer Hospital, Barretos, Brazil.
Wesley J MagnaboscoDepartment of Urology, Barretos Cancer Hospital, Barretos, Brazil.
BioBank Japan Project
Ana VilasDepartment of Pathology, Hospital Pasteur, Montevideo, Uruguay.
Ricardo DeciaDepartment of Urology, Hospital Pasteur, Montevideo, Uruguay.
Florencia CarussoTumor Bank, Hospital Militar, Montevideo, Uruguay.
Laura S GrahamDepartment of Medicine, Division of Medical Oncology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Kyra AndersonOncology Clinical Research Support Team, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Mehmet A BilenDepartment of Hematology and Medical Oncology, Winship Cancer Institute, Emory University School of Medicine, Atlanta, GA, USA.
Cletus ArcieroDepartment of Surgery, Winship Cancer Institute, Emory University School of Medicine, Atlanta, GA, USA.
Isabelle PellegrinBiobank, Bordeaux Biothèque Santé, CHU Bordeaux, Bordeaux, France.
Solène RicardDepartment of Urology, CHU Bordeaux, Bordeaux, France.
FinnGen
Ghislaine SceloObservational and Pragmatic Research Institute Pte Ltd, Singapore, Singapore.
Rosamonde E BanksLeeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.ORCID http://orcid.org/0000-0002-0042-8715
Naveen S VasudevDepartment of Oncology, Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.
Naeem SoomroDepartment of Urology, Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.
Grant D StewartDepartment of Urology, Western General Hospital, NHS Lothian, Edinburgh, UK.ORCID http://orcid.org/0000-0003-3188-9140
Adebanji AdeyojuDepartment of Urology, Stockport NHS Foundation Trust, Stockport, UK.
Stephen BromageDepartment of Urology, Stockport NHS Foundation Trust, Stockport, UK.
David HroudaDepartment of Urology, Imperial College Healthcare NHS Trust, London, UK.
Norma GibbonsDepartment of Urology, Imperial College Healthcare NHS Trust, London, UK.
Poulam PatelDivision of Oncology, University of Nottingham, Nottingham, UK.ORCID http://orcid.org/0000-0002-1978-4066
Mark SullivanDepartment of Urology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.ORCID http://orcid.org/0000-0001-5212-2796
Andrew ProtheroeDepartment of Oncology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.ORCID http://orcid.org/0000-0001-9413-0575
Francesca I NugentDepartment of Urology, Holden Comprehensive Cancer Center, University of Iowa, Iowa City, IA, USA.
Michelle J FournierTissue Core, Moffitt Cancer Center, Tampa, FL, USA.
Xiaoyu ZhangDepartment of Surgical Oncology, Division of Urology, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Lisa J MartinDepartment of Surgical Oncology, Division of Urology, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Maria KomisarenkoDepartment of Surgical Oncology, Division of Urology, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Timothy EisenDepartment of Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Sonia A CunninghamDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Denise C ConnollyCancer Signaling and Microenvironment, Biosample Repository Facility, Fox Chase Cancer Center-Temple Health, Philadelphia, PA, USA.
Robert G UzzoDepartment of Urology, Fox Chase Cancer Center-Temple Health, Philadelphia, PA, USA.
David ZaridzeDepartment of Clinical Epidemiology, N.N. Blokhin National Medical Research Centre of Oncology, Moscow, Russia.
Anush MukeriaDepartment of Clinical Epidemiology, N.N. Blokhin National Medical Research Centre of Oncology, Moscow, Russia.
Ivana HolcatovaInstitute of Public Health and Preventive Medicine, Second Faculty of Medicine, Charles University, Prague, Czech Republic.ORCID http://orcid.org/0000-0002-1366-0337
Anna HornakovaInstitute of Hygiene and Epidemiology, First Faculty of Medicine, Charles University, Prague, Czech Republic.ORCID http://orcid.org/0000-0002-1024-8056
Lenka ForetovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.ORCID http://orcid.org/0000-0003-0494-2620
Vladimir JanoutFaculty of Health Sciences, Palacky University, Olomouc, Czech Republic.
Dana MatesDepartment of Occupational Health and Toxicology, National Center for Environmental Risk Monitoring, National Institute of Public Health, Bucharest, Romania.
Viorel JingaUrology Department, Academy of Romanian Scientists, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Stefan RascuUrology Department, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Mirjana MijuskovicClinic of Nephrology, Faculty of Medicine, Military Medical Academy, Belgrade, Serbia.
Slavisa SavicDepartment of Urology, Clinical Hospital Center Dr Dragisa Misovic Dedinje, Belgrade, Serbia.ORCID http://orcid.org/0000-0002-3635-7437
Sasa MilosavljevicInternational Organisation for Cancer Prevention and Research, Belgrade, Serbia.
Valérie GaborieauGenomic Epidemiology Branch, International Agency for Research on Cancer, Lyon, France.
Behnoush Abedi-ArdekaniGenomic Epidemiology Branch, International Agency for Research on Cancer, Lyon, France.
James McKayGenomic Epidemiology Branch, International Agency for Research on Cancer, Lyon, France.
Mattias JohanssonGenomic Epidemiology Branch, International Agency for Research on Cancer, Lyon, France.
Larry PhouthavongsyOntario Tumour Bank, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.ORCID http://orcid.org/0009-0007-6853-7233
Lindsay HaymanDiagnostic Development Program, Tissue Portal, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.ORCID http://orcid.org/0009-0009-2252-5143
Jason LiDiagnostic Development Program, Tissue Portal, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-9174-2514
Ilinca LunguOntario Tumour Bank, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Stephania M BezerraDepartment of Pathology, A.C. Camargo Cancer Center, São Paulo, Brazil.
Aline G SouzaDepartments of Medical Imaging, Hematology and Oncology, Division of Medical Oncology, Ribeirao Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil.
Claudia T G SaresDepartments of Surgery and Anatomy, Division of Urology, Ribeirao Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil.
Rodolfo B ReisDepartments of Surgery and Anatomy, Division of Urology, Ribeirao Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil.
Fabio P GallucciSurgery Department, Urology Division, Instituto do Cancer do Estado de São Paulo, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.ORCID http://orcid.org/0000-0001-7434-113X
Mauricio D CordeiroSurgery Department, Urology Division, Instituto do Cancer do Estado de São Paulo, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Mark PomerantzDana-Farber Cancer Institute, Boston, MA, USA.
Gwo-Shu M LeeDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Matthew L FreedmanDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0151-1238
Anhyo JeongDepartment of Urology, UCLA Jonsson Comprehensive Cancer Center, Los Angeles, CA, USA.
Samantha E GreenbergDepartment of Population Sciences, Genetic Counseling Shared Resource, Huntsman Cancer Institute, Salt Lake City, UT, USA.
Alejandro SanchezDepartment of Surgery, Division of Urology, Huntsman Cancer Institute and University of Utah, Salt Lake City, UT, USA.
R Houston ThompsonDepartment of Urology, Mayo Clinic, Rochester, MN, USA.
Vidit SharmaDepartment of Urology, Mayo Clinic, Rochester, MN, USA.
David D ThielDepartment of Urology, Mayo Clinic, Jacksonville, FL, USA.
Colleen T BallDepartment of Quantitative Health Sciences, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0001-7951-3842
Diego AbreuDepartment of Urology, Hospital Pasteur, Montevideo, Uruguay.ORCID http://orcid.org/0000-0001-8232-5092
Elaine T LamDepartment of Medicine, Division of Medical Oncology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
William C NahasSurgery Department, Urology Division, Instituto do Cancer do Estado de São Paulo, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Viraj A MasterDepartment of Urology, Winship Cancer Institute, Emory University School of Medicine, Atlanta, GA, USA.
Alpa V PatelDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Jean-Christophe BernhardDepartment of Urology, CHU Bordeaux, Bordeaux, France.
Neal D FreedmanMetabolic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Pierre BigotDepartment of Urology, CHU Angers, Angers, France.ORCID http://orcid.org/0000-0002-5669-9020
Rui M ReisMolecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.ORCID http://orcid.org/0000-0002-9639-7940
Leandro M ColliDepartament of Medical Image, Hematology and Oncology, Division of Medical Oncology, Ribeirao Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil.ORCID http://orcid.org/0000-0001-6928-1195
Antonio FinelliDepartment of Surgical Oncology, Division of Urology, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Brandon J ManleyGenitourinary Oncology Program, Moffitt Cancer Center, Tampa, FL, USA.ORCID http://orcid.org/0000-0002-7927-1510
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-6452-4095
Toni K ChoueiriDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID http://orcid.org/0000-0002-9201-3217
Dirce M CarraroClinical and Functional Genomics Group, CIPE (International Research Center), A.C. Camargo Cancer Center, São Paulo, Brazil.
Richard HoulstonDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.ORCID http://orcid.org/0000-0002-5268-0242
Jeanette E Eckel-PassowDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Philip H AbboshDepartment of Nuclear Dynamics and Cancer, Fox Chase Cancer Center-Temple Health, Philadelphia, PA, USA.
Andrea GannaInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Paul BrennanGenomic Epidemiology Branch, International Agency for Research on Cancer, Lyon, France.
Jian GuDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.ORCID http://orcid.org/0000-0003-3499-0973
Stephen J ChanockLaboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA. chanocks@mail.nih.gov.ORCID http://orcid.org/0000-0002-2324-3393
National Cancer Institute · USUniversity Health Network · CAOntario Institute for Cancer Research · CABroad Institute · USEmory University · USFrederick National Laboratory for Cancer Research · USAmerican Cancer Society · USCentre Hospitalier Universitaire d'Angers · FRCentre Hospitalier Universitaire de Bordeaux · FRCentre international de recherche sur le cancer · FRCharles University · CZFox Chase Cancer Center · USHospital de Câncer de Barretos · BRInstituto do Câncer do Estado de São Paulo · BRUniversidade de São Paulo · BRAC Camargo Hospital · BRBanco Central del Uruguay · UYBooz Allen Hamilton (United States) · USCarol Davila University of Medicine and Pharmacy · ROHuntsman Cancer Institute · US

Funding

Molecular Therapeutics of Kidney Cancer: VHL Gene and Fumarate Hydratase GeneZIABC011038 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2009 to 2025
$29.8M
Molecular Therapeutics of Kidney Cancer: MET Gene and BHD GeneZIABC011043 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2009 to 2025
$20.9M
Clinical Studies of the Molecular Genetic Basis of Kidney CancerZIABC011028 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2009 to 2025
$17.9M
Clinical Nursing and Data Management CoreZIDBC011089 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI LINEHAN, WILLIAM MARSTON · 2009 to 2025
$17.4M
Cancer Genetic Markers of SusceptibilityZIACP010187 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI CHANOCK, STEPHEN J. · 2009 to 2025
$4.7M
Intramural NIH HHS ZIA CP010187World Health Organization 001
6 · The paper itself

Abstract

Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) containing 108 independent risk loci. In analyses stratified by subtype, 52 regions (78 loci) were associated with clear cell renal cell carcinoma (RCC) and 6 regions (7 loci) with papillary RCC. Notably, we report a variant common in African ancestry individuals ( rs7629500 ) in the 3' untranslated region of VHL, nearly tripling clear cell RCC risk (odds ratio 2.72, 95% confidence interval 2.23-3.30). In cis-expression quantitative trait locus analyses, 48 variants from 34 regions point toward 83 candidate genes. Enrichment of hypoxia-inducible factor-binding sites underscores the importance of hypoxia-related mechanisms in kidney cancer. Our results advance understanding of the genetic architecture of kidney cancer, provide clues for functional investigation and enable generation of a validated polygenic risk score with an estimated area under the curve of 0.65 (0.74 including risk factors) among European ancestry individuals.

Indexed as

Carcinoma, Renal CellGenetic Predisposition to DiseaseGenome-Wide Association StudyKidney NeoplasmsPolymorphism, Single NucleotideQuantitative Trait LociBlack PeopleCase-Control StudiesHumansVon Hippel-Lindau Tumor Suppressor ProteinWhite PeopleVon Hippel-Lindau Tumor Suppressor Protein

Identifiers

PMID38671320
PMCPMC13224750
OpenAlexW4395667837

What OpenQuestion holds

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Registered trials

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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.