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A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Bastard, Paul, Hsiao, Kuang-Chih, Zhang, Qian, Choin, Jeremy, Best, Emma, Chen, Jie, Gervais, Adrian, Bizien, Lucy, Materna, Marie, Harmant, Christine, Roux, Maguelonne, Hawley, Nicola L., Weeks, Daniel E., McGarvey, Stephen T., Sandoval, Karla, Barberena-Jonas, Carmina, Quinto-Cortés, Consuelo D., Hagelberg, Erika, Mentzer, Alexander J., Robson, Kathryn, Coulibaly, Boubacar, Seeleuthner, Yoann, Bigio, Benedetta, Li, Zhi, Uzé, Gilles, Pellegrini, Sandra, Lorenzo, Lazaro, Sbihi, Zineb, Latour, Sylvain, Besnard, Marianne, Adam de Beaumais, Tiphaine, Jacqz Aigrain, Evelyne, Béziat, Vivien, Deka, Ranjan, Esera Tulifau, Litara, Viali, Satupa‘itea, Reupena, Muagututi‘a Sefuiva, Naseri, Take, McNaughton, Peter, Sarkozy, Vanessa, Peake, Jane, Blincoe, Annaliesse, Primhak, Sarah, Stables, Simon, Gibson, Kate, Woon, See-Tarn, Drake, Kylie Marie, Hill, Adrian V.S., Chan, Cheng-Yee, King, Richard, Ameratunga, Rohan, Teiti, Iotefa, Aubry, Maite, Cao-Lormeau, Van-Mai, Tangye, Stuart G., Zhang, Shen-Ying, Jouanguy, Emmanuelle, Gray, Paul, Abel, Laurent, Moreno-Estrada, Andrés, Minster, Ryan L., Quintana-Murci, Lluis, Wood, Andrew C., Casanova, Jean-Laurent·2022·Journal of Experimental Medicine
DOI 10.1084/jem.20220028PMC PMC9026234
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Abstract

Globally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven children from five unrelated kindreds of western Polynesian ancestry who suffered from severe viral diseases. All the patients are homozygous for the same nonsense IFNAR1 variant (p.Glu386*). This allele encodes a truncated protein that is absent from the cell surface and is loss-of-function. The fibroblasts of the patients do not respond to type I IFNs (IFN-α2, IFN-ω, or IFN-β). Remarkably, this IFNAR1 variant has a minor allele frequency >1% in Samoa and is also observed in the Cook, Society, Marquesas, and Austral islands, as well as Fiji, whereas it is extremely rare or absent in the other populations tested, including those of the Pacific region. Inherited IFNAR1 deficiency should be considered in individuals of Polynesian ancestry with severe viral illnesses.

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Figure 1. Homozygous pLOF IFNAR1 variant in Polynesians with adverse events after LAV vaccination. (A) Family pedigree showing the segregation of the IFNAR1 p.Glu386* allele in the seven patients from five kindreds. The proband is indicated by an arrow. E?, unknown IFNAR1 genotype. (B) The giant multinucleated WFCs (identified by black arrows) in the lung (upper panel) and LNs (lower panel) of P1 are pathognomic of measles infection (Laksono et al., 2016). WFC was determined for the tonsils and adenoids during prodromal measles (Nozawa et al., 1994) and in the regional LNs after immunization and after fatal measles infection (Becroft and Osborne, 1980). Scale bar represents 400 µm. (C) Sanger sequencing results for IFNAR1 in leukocyte gDNA from the patients, their parents, and healthy controls. (D) Schematic diagram of the WT and mutant (MT) IFNAR1 proteins. SD1–4, extracellular subdomains 1–4; SP, signal peptide; TM, transmembrane region. The mutation reported here is indicated in red, and the previously reported mutations are indicated in violet.
Figure 1. Homozygous pLOF IFNAR1 variant in Polynesians with adverse events after LAV vaccination. (A) Family pedigree showing the segregation of the IFNAR1 p.Glu386* allele in the seven patients from five kindreds. The proband is indicated by an arrow. E?, unknown IFNAR1 genotype. (B) The giant multinucleated WFCs (identified by black arrows) in the lung (upper panel) and LNs (lower panel) of P1 are pathognomic of measles infection (Laksono et al., 2016). WFC was determined for the tonsils and adenoids during prodromal measles (Nozawa et al., 1994) and in the regional LNs after immunization and after fatal measles infection (Becroft and Osborne, 1980). Scale bar represents 400 µm. (C) Sanger sequencing results for IFNAR1 in leukocyte gDNA from the patients, their parents, and healthy controls. (D) Schematic diagram of the WT and mutant (MT) IFNAR1 proteins. SD1–4, extracellular subdomains 1–4; SP, signal peptide; TM, transmembrane region. The mutation reported here is indicated in red, and the previously reported mutations are indicated in violet.CC BY · PubMed Central
Figure S1. Genetic analysis of P1. (A) Principal component analysis (PCA) for P1. Although there are no Polynesians included in the PCA for triangulation of P1’s ancestry, individuals of Polynesian ancestry often locate on visualizations of the first and second principal components adjacent to East Asian samples (Minster et al., 2016). (B) Filtering criteria used for the single-nucleotide variant (SNV) analysis of WES results for P1. CADD, combined annotation-dependent depletion; GDI, gene damage index.
Figure S1. Genetic analysis of P1. (A) Principal component analysis (PCA) for P1. Although there are no Polynesians included in the PCA for triangulation of P1’s ancestry, individuals of Polynesian ancestry often locate on visualizations of the first and second principal components adjacent to East Asian samples (Minster et al., 2016). (B) Filtering criteria used for the single-nucleotide variant (SNV) analysis of WES results for P1. CADD, combined annotation-dependent depletion; GDI, gene damage index.CC BY · PubMed Central
Figure S2. XIAP p.Gly113Arg, carried by P1 and P2, is neutral. (A) Pedigrees of families with XIAP variant (kindred A, P1, and P2 shown). Black boxes represent subjects affected by HLH-like. Diagonal bars indicate deceased subjects. (B) Sanger sequencing results for XIAP for P1 and P2 of kindred A, the parents, and healthy control leukocyte gDNA. (C) Lyonization in P1’s and mother’s gDNA. (D) Normal expression of XIAP by flow cytometry in CD3+ cells, a control, the mother of P1, and a XIAP-deficient patient. (E) Normal production of TNF-α in response to NOD2 stimulation by muramyl dipeptide (MDP) in monocytes from a control and the mother of P1, while it is defective in a XIAP-deficient patient. Bar graphs showing percentage of monocytes expressing TNFα from intracellular staining data. (F) Normal activation-induced cell death in response to anti-CD3, assessed by Annexin V staining, in T cells from a control and the mother of P1, while it is increased in a XIAP-deficient patient.
Figure S2. XIAP p.Gly113Arg, carried by P1 and P2, is neutral. (A) Pedigrees of families with XIAP variant (kindred A, P1, and P2 shown). Black boxes represent subjects affected by HLH-like. Diagonal bars indicate deceased subjects. (B) Sanger sequencing results for XIAP for P1 and P2 of kindred A, the parents, and healthy control leukocyte gDNA. (C) Lyonization in P1’s and mother’s gDNA. (D) Normal expression of XIAP by flow cytometry in CD3+ cells, a control, the mother of P1, and a XIAP-deficient patient. (E) Normal production of TNF-α in response to NOD2 stimulation by muramyl dipeptide (MDP) in monocytes from a control and the mother of P1, while it is defective in a XIAP-deficient patient. Bar graphs showing percentage of monocytes expressing TNFα from intracellular staining data. (F) Normal activation-induced cell death in response to anti-CD3, assessed by Annexin V staining, in T cells from a control and the mother of P1, while it is increased in a XIAP-deficient patient.CC BY · PubMed Central
Figure 2. The IFNAR1 p.Glu386* variant results in a truncated protein that is not expressed at cell surface and is loss-of-function. (A) IFNAR1 mRNA levels, determined by RT-qPCR, in HEK293T cells transiently transfected with WT or MT IFNAR1 cDNA constructs; β glucuronidase (GUS) was used as an expression control. EV, empty vector; NT, nontransfected; p.V225fs variant from a previously reported IFNAR1−/− patient. Error bars indicate SD. (B) Western blot of IFNAR1 in HEK293T cells transiently transfected with WT and mutant IFNAR1 cDNA constructs. An antibody recognizing the IFNAR1 protein was used. GAPDH was used as a loading control. One blot representative of two independent experiments is shown. (C) Immunofluorescence staining as assessed by confocal microscopy in HeLa cells transiently transfected with IFNAR1 cDNA constructs. An antibody against the N-terminus of IFNAR1 was used (green), and membranes were stained with wheatgerm agglutinin (WGA; purple). The nuclei were stained with DAPI (blue). Scale bar represents 10 µm. The images shown are representative of two independent experiments. (D) Graphical representation of extracellular FACS staining and the mean fluorescence intensity (MFI) for IFNAR1 in HEK293T cells transiently transfected with IFNAR1 cDNA constructs, performed with an antibody recognizing the N-terminus of the protein. Cells were not permeabilized. Results representative of three independent experiments are shown. Error bars indicate the SD. (E) Luciferase activity after IFN-α2 stimulation in IFNAR1−/− HEK293T cells generated with CRISPR/Cas-9 technology and transiently transfected with WT or MT IFNAR1 cDNA constructs. The bars represent the means and SEM of the results obtained in three independent experiments. Ctrl, control; RLU, relative light units. Source data are available for this figure: SourceData F2.
Figure 2. The IFNAR1 p.Glu386* variant results in a truncated protein that is not expressed at cell surface and is loss-of-function. (A) IFNAR1 mRNA levels, determined by RT-qPCR, in HEK293T cells transiently transfected with WT or MT IFNAR1 cDNA constructs; β glucuronidase (GUS) was used as an expression control. EV, empty vector; NT, nontransfected; p.V225fs variant from a previously reported IFNAR1−/− patient. Error bars indicate SD. (B) Western blot of IFNAR1 in HEK293T cells transiently transfected with WT and mutant IFNAR1 cDNA constructs. An antibody recognizing the IFNAR1 protein was used. GAPDH was used as a loading control. One blot representative of two independent experiments is shown. (C) Immunofluorescence staining as assessed by confocal microscopy in HeLa cells transiently transfected with IFNAR1 cDNA constructs. An antibody against the N-terminus of IFNAR1 was used (green), and membranes were stained with wheatgerm agglutinin (WGA; purple). The nuclei were stained with DAPI (blue). Scale bar represents 10 µm. The images shown are representative of two independent experiments. (D) Graphical representation of extracellular FACS staining and the mean fluorescence intensity (MFI) for IFNAR1 in HEK293T cells transiently transfected with IFNAR1 cDNA constructs, performed with an antibody recognizing the N-terminus of the protein. Cells were not permeabilized. Results representative of three independent experiments are shown. Error bars indicate the SD. (E) Luciferase activity after IFN-α2 stimulation in IFNAR1−/− HEK293T cells generated with CRISPR/Cas-9 technology and transiently transfected with WT or MT IFNAR1 cDNA constructs. The bars represent the means and SEM of the results obtained in three independent experiments. Ctrl, control; RLU, relative light units. Source data are available for this figure: SourceData F2.CC BY · PubMed Central
Figure 3. Patient SV40-fibroblasts do not express IFNAR1 at the cell surface and do not respond to IFN-α/β. (A) IFNAR1 mRNA levels in SV40-fibroblasts from three healthy controls (C1, C2, C3), P3, and the previously reported p.V225fs IFNAR1−/− patient; GUS was used as an expression control. Mean values and SD from two independent experiments, each with technical duplicates, are shown. (B) Mean fluorescence intensity (MFI) following extracellular FACS staining of IFNAR1 in SV40-fibroblasts from three healthy controls (C1, C2, and C3), P3, and a previously reported IFNAR1−/− patient. Cells were not permeabilized. An antibody recognizing the N-terminal part of the protein was used. (C) Intracellular FACS staining of p-STAT1 in SV40-fibroblasts stimulated with 100 ng/ml IFN-α2, or IFN-γ for 15 min, in two healthy controls (C1 and C2), P3, and a previously reported IFNAR1−/− patient. (D) Fold-change in MX1 mRNA levels after 6 h of stimulation with IFN-α2b, IFN-β, IFN-ω, or IFN-γ, in SV40-fibroblasts from two healthy controls (C1 and C2), P3, and IFNAR1−/− patients. The GUS housekeeping gene was used as an expression control. The mean and SD values from two independent experiments are shown. (E) Fold-change in MX1 mRNA levels after stimulation for 6 h with IFN-α2b, IFN-β, or IFN-ω in SV40-fibroblasts from P3, transfected on the previous day with empty vector, MT, or WT IFNAR1 plasmids. The GUS housekeeping gene was used as an expression control. Mean and SD values from two independent experiments are shown.
Figure 3. Patient SV40-fibroblasts do not express IFNAR1 at the cell surface and do not respond to IFN-α/β. (A) IFNAR1 mRNA levels in SV40-fibroblasts from three healthy controls (C1, C2, C3), P3, and the previously reported p.V225fs IFNAR1−/− patient; GUS was used as an expression control. Mean values and SD from two independent experiments, each with technical duplicates, are shown. (B) Mean fluorescence intensity (MFI) following extracellular FACS staining of IFNAR1 in SV40-fibroblasts from three healthy controls (C1, C2, and C3), P3, and a previously reported IFNAR1−/− patient. Cells were not permeabilized. An antibody recognizing the N-terminal part of the protein was used. (C) Intracellular FACS staining of p-STAT1 in SV40-fibroblasts stimulated with 100 ng/ml IFN-α2, or IFN-γ for 15 min, in two healthy controls (C1 and C2), P3, and a previously reported IFNAR1−/− patient. (D) Fold-change in MX1 mRNA levels after 6 h of stimulation with IFN-α2b, IFN-β, IFN-ω, or IFN-γ, in SV40-fibroblasts from two healthy controls (C1 and C2), P3, and IFNAR1−/− patients. The GUS housekeeping gene was used as an expression control. The mean and SD values from two independent experiments are shown. (E) Fold-change in MX1 mRNA levels after stimulation for 6 h with IFN-α2b, IFN-β, or IFN-ω in SV40-fibroblasts from P3, transfected on the previous day with empty vector, MT, or WT IFNAR1 plasmids. The GUS housekeeping gene was used as an expression control. Mean and SD values from two independent experiments are shown.CC BY · PubMed Central
Figure S3. Normal IFNAR2 expression and impaired response to type I IFNs in the patient's cells. (A) Mean fluorescence intensity (MFI) following extracellular FACS staining of IFNAR2 in SV40-fibroblasts from two healthy controls (C1 and C2), P3, and a previously reported IFNAR2−/− patient. Cells were not permeabilized. An antibody recognizing the N-terminal part of the protein was used. (B) Fold-change in CXCL9 mRNA levels after stimulation for 6 h with IFN-α2b, IFN-β, or IFN-ω in SV40-fibroblasts from P3, transfected on the previous day with empty vector, MT, or WT IFNAR1 plasmids. The GUS housekeeping gene was used as an expression control. Mean and SD values from two independent experiments are shown.
Figure S3. Normal IFNAR2 expression and impaired response to type I IFNs in the patient's cells. (A) Mean fluorescence intensity (MFI) following extracellular FACS staining of IFNAR2 in SV40-fibroblasts from two healthy controls (C1 and C2), P3, and a previously reported IFNAR2−/− patient. Cells were not permeabilized. An antibody recognizing the N-terminal part of the protein was used. (B) Fold-change in CXCL9 mRNA levels after stimulation for 6 h with IFN-α2b, IFN-β, or IFN-ω in SV40-fibroblasts from P3, transfected on the previous day with empty vector, MT, or WT IFNAR1 plasmids. The GUS housekeeping gene was used as an expression control. Mean and SD values from two independent experiments are shown.CC BY · PubMed Central
Figure S4. Population genetics of homozygous coding missense IFNAR1 variants present in gnomAD v2.1. The patient’s variant is shown in red, whereas the variants present in gnomAD are shown in black. Dotted line represents the gene damage index. CADD, combined annotation-dependent depletion.
Figure S4. Population genetics of homozygous coding missense IFNAR1 variants present in gnomAD v2.1. The patient’s variant is shown in red, whereas the variants present in gnomAD are shown in black. Dotted line represents the gene damage index. CADD, combined annotation-dependent depletion.CC BY · PubMed Central
Figure 4. The p.Glu386* variant is extremely rare or absent in most regions of the world tested, but frequent in western Polynesia. Map showing the frequency distribution of the two alleles (c.1156G>T) in different Pacific and continental populations (Europeans [non-Finnish] and East Asians from gnomADv3.2.1; Karczewski et al., 2020), and Pacific populations including Taiwanese indigenous peoples, Philippine populations, and ni-Vanuatu (Choin et al., 2021); New Guineans and Bougainville islanders (Bergstrom et al., 2020); Polynesians from Samoa (the Soifua Manuia study; Harris et al., 2020); and populations from Fiji, Tonga, and the Cook, Society, Austral, Tuamotu, Gambier, and Marquesas Islands. To aid visualization of the variant distribution, a factor 10 correction has been applied to allele frequencies, so that a full pie chart corresponds to MAF = 10% and a quarter of a pie chart to MAF = 2.5% (as denoted in the schematic legend).
Figure 4. The p.Glu386* variant is extremely rare or absent in most regions of the world tested, but frequent in western Polynesia. Map showing the frequency distribution of the two alleles (c.1156G>T) in different Pacific and continental populations (Europeans [non-Finnish] and East Asians from gnomADv3.2.1; Karczewski et al., 2020), and Pacific populations including Taiwanese indigenous peoples, Philippine populations, and ni-Vanuatu (Choin et al., 2021); New Guineans and Bougainville islanders (Bergstrom et al., 2020); Polynesians from Samoa (the Soifua Manuia study; Harris et al., 2020); and populations from Fiji, Tonga, and the Cook, Society, Austral, Tuamotu, Gambier, and Marquesas Islands. To aid visualization of the variant distribution, a factor 10 correction has been applied to allele frequencies, so that a full pie chart corresponds to MAF = 10% and a quarter of a pie chart to MAF = 2.5% (as denoted in the schematic legend).CC BY · PubMed Central

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Authors
Bastard, P., Hsiao, K.-C., Zhang, Q., Choin, J., Best, E., Chen, J., Gervais, A., Bizien, L., Materna, M., Harmant, C., Roux, M., Hawley, N. L., Weeks, D. E., McGarvey, S. T., Sandoval, K., Barberena-Jonas, C., Quinto-Cortés, C. D., Hagelberg, E., Mentzer, A. J., Robson, K., Coulibaly, B., Seeleuthner, Y., Bigio, B., Li, Z., Uzé, G., Pellegrini, S., Lorenzo, L., Sbihi, Z., Latour, S., Besnard, M., Adam de Beaumais, T., Jacqz Aigrain, E., Béziat, V., Deka, R., Esera Tulifau, L., Viali, S., Reupena, M. S., Naseri, T., McNaughton, P., Sarkozy, V., Peake, J., Blincoe, A., Primhak, S., Stables, S., Gibson, K., Woon, S.-T., Drake, K. M., Hill, A. V. S., Chan, C.-Y., King, R., Ameratunga, R., Teiti, I., Aubry, M., Cao-Lormeau, V.-M., Tangye, S. G., Zhang, S.-Y., Jouanguy, E., Gray, P., Abel, L., Moreno-Estrada, A., Minster, R. L., Quintana-Murci, L., Wood, A. C., & Casanova, J.-L.
Affiliations
  • Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France 1
  • Starship Child Health, Auckland, New Zealand 5
  • Institut Pasteur, Université de Paris, CNRS UMR2000, Human Evolutionary Genetics Unit, Paris, France 9
  • St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 2
  • Department of Chronic Disease Epidemiology, Yale University School of Public Health, New Haven, CT 14
  • Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 16
  • International Health Institute, Department of Epidemiology, School of Public Health, Brown University, Providence, RI 15
  • National Laboratory of Genomics for Biodiversity (LANGEBIO) - UGA, CINVESTAV, Irapuato, Guanajuato, Mexico 19
  • Department of Biology, University of Oslo, Oslo, Norway 20
  • Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK 21
  • MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK 23
  • Institute for Regenerative Medicine and Biotherapy, Université Montpellier, INSERM, CNRS, Montpellier, France 25
  • Unit of Cytokine Signaling, Pasteur Institute, INSERM U1224, Paris, France 24
  • Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France 26
  • Paris Cité University, Imagine Institute, Paris, France 3
  • Department of Neonatology, Centre Hospitalier de Polynésie Française, Papeete, French Polynesia 27
  • Precision Cancer Medicine Team, Institut Gustave Roussy, Villejuif, France 28
  • Paris Cité University, Paris, France 11
  • Department of Environmental and Public Health Sciences, College of Medicine, University of Cincinnati, Cincinnati, OH 30
  • Tupua Tamasese Meaole Hospital, Apia, Samoa 31
  • School of Medicine, National University of Samoa, Apia, Samoa 32
  • Lutia i Puava ae Mapu i Fagalele, Apia, Samoa 33
  • Clinical Immunogenomics Research Consortium Australasia, Sydney, Australia 8
  • Tumbatin Developmental Services, Sydney Children’s Hospital, Randwick, New South Wales, Australia 36
  • Department of Forensic Pathology, Auckland City Hospital, Auckland, New Zealand 38
  • Clinical Geneticist, South Island Hub, Genetic Health Service, Christchurch, New Zealand 39
  • Department of Virology and Immunology, LabPLUS, Auckland City Hospital, Auckland, New Zealand 40
  • Molecular Pathology, Canterbury Health Laboratories, Christchurch, New Zealand 42
  • Chemical Pathology and Genetics, Canterbury Health Laboratories, Christchurch, New Zealand 44
  • Laboratory of Research on Infectious Vector-borne Diseases, Institut Louis Malardé, Papeete, French Polynesia 46
ORCID
Venue
Journal of Experimental Medicine
Publisher
Rockefeller University Press
Published
2022-04-20
Volume
219
Issue
6
ISSN
  • 0022-1007
  • 1540-9538
DOI
10.1084/jem.20220028
PMC
PMC9026234
Cited by
70
References
6
Language
en
Licence
creativecommons.org/licenses/by/4.0/ (vor)
Funders
  • MATAEA (03557/MED/REC_29/05/2019)
  • Institut Pasteur
  • Collège de France
  • Centre national de la recherche scientifique
  • Fondation Allianz-Institut de France
  • French Government’s Investissement d’Avenir program
  • Milieu Intérieur (ANR-10-LABX-69-01)
  • Fondation de France (00106080)
  • Fondation pour la Recherche Médicale (Equipe FRM DEQ20180339214, EQU201903007798, EA20170638020)
  • Howard Hughes Medical Institute
  • Rockefeller University
  • St. Giles Foundation
  • National Institutes of Health (R01AI088364, R01AI163029, R01-HL093093, R01-HL133040)
  • National Center for Advancing Translational Sciences
  • NIH Clinical and Translational Science Award (UL1 TR001866)
  • Emergent Ventures
  • Mercatus Center at George Mason University
  • Yale Center for Mendelian Genomics
  • National Human Genome Research Institute (UM1HG006504, U24HG008956)
  • Yale High-Performance Computing Center (S10OD018521)
  • Fisher Center for Alzheimer’s Research Foundation
  • Meyer Foundation
  • French National Research Agency (ANR-10-IAHU-01)
  • Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID)
  • FRM and ANR GENCOVID project
  • ANRS-COV05
  • ANR GENVIR (ANR-20-CE93-003)
  • ANR AABIFNCOV (ANR-20-CO11-0001)
  • European Union’s Horizon 2020 research and innovation program (824110)
  • Square Foundation
  • Grandir - Fonds de solidarité pour l’enfance
  • Fondation du Souffle
  • SCOR Corporate Foundation for Science
  • Institut National de la Santé et de la Recherche Médicale
  • French Ministry of Higher Education, Research, and Innovation
  • University of Paris
  • Imagine Institute
  • Fondation Bettencourt-Schueller
  • Consejo Nacional de Ciencia y Technologia (FONCICYT/50/2016)
  • Medical Research Council (MR/N028937/1)
  • International Center for Genetic Engineering and Biotechnology (CRP/MEX20-01)
  • National Health and Medical Research Council of Australia (1176665)
  • John Brown Cook Foundation
  • National Heart, Lung and Blood Institute
  • Northwest Genomics Center (HHSN268201100037C)
  • New York Genome Center (HHSN268201500016C)
  • TOPMed Informatics Research Center (3R01-HL117626-02S1, HHSN268201800002I)
  • TOPMed Data Coordinating Center (01-HL120393, U01-HL120393, HHSN268201800001I)
  • Jeffrey Modell Foundation

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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