ArticleNature2025
Rare disease gene association discovery in the 100,000 Genomes Project.
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Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
–field-weighted citation impact
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
14 citing papers in PubMed.
- Telomere dysfunction and mucociliary impairment drive idiopathic pulmonary fibrosis susceptibility: insights from a Sardinian whole-exome study.BMJ open respiratory research · 2026Article
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- Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis.Ophthalmology science · 2026Article
- Genetic Determinants of T-Cell Homeostasis in Critical Illness: An Exploratory Analysis of Immune Gene Variants and TREC Dynamics.Journal of personalized medicine · 2026Article
- Genomics of drug target prioritization for complex diseases.Nature reviews. Genetics · 2026Review
- Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background.Epilepsia · 2026Article
- Fifty Shades of Risk: Population Studies and the Genetic Architecture of Kidney Diseases.Journal of the American Society of Nephrology : JASN · 2026Review
- Tracing the evolutionary histories of ultra-rare variants using variational dating of large ancestral recombination graphs.bioRxiv : the preprint server for biology · 2026Article
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.Frontiers in genetics · 2026Article
- Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.International journal of molecular sciences · 2025Observational
- RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.NPJ genomic medicine · 2025Article
- Rare Homozygous Variants inInternational journal of molecular sciences · 2025Article
- Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.medRxiv : the preprint server for health sciences · 2025Article
- Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study.Human genomics · 2025Article
Corrections and comments
- Update of
Authors and funding
61 authors.
Valentina Cipriani *Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK. v.cipriani@qmul.ac.uk.ORCID http://orcid.org/0000-0002-0839-9955
Letizia Vestito *Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0003-0008-936X
Emma F MagavernClinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0003-0699-6411
Julius O B JacobsenClinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-3265-1591
Gavin ArnoUCL Institute of Ophthalmology, University College London, London, UK.
Elijah R BehrCardiology Section, Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK.ORCID http://orcid.org/0000-0002-8731-2853
Katherine A BensonSchool of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Republic of Ireland.
Marta BertoliNorthern Genetics Centre, The Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
Detlef BockenhauerPaediatric Nephrology, University Hospital and Catholic University Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0001-5878-941X
Michael R BowlUCL Ear Institute, University College London, London, UK.ORCID http://orcid.org/0000-0001-7971-445X
Kate BurleySchool of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-1569-5007
Li F ChanCentre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.
Patrick ChinneryMedical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.
Peter J ConlonDepartment of Medicine, Royal College of Surgeons in Ireland and Department of Nephrology, Beaumont Hospital, Dublin, Republic of Ireland.
Marcos A CostaUCL Institute of Ophthalmology, University College London, London, UK.ORCID http://orcid.org/0009-0008-5699-1567
Alice E DavidsonUCL Institute of Ophthalmology, University College London, London, UK.
Sally J DawsonUCL Ear Institute, University College London, London, UK.ORCID http://orcid.org/0000-0002-4421-2043
Elhussein A E ElhassanDepartment of Medicine, Royal College of Surgeons in Ireland and Department of Nephrology, Beaumont Hospital, Dublin, Republic of Ireland.
Sarah E FlanaganDepartment of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.ORCID http://orcid.org/0000-0002-8670-6340
Marta FutemaCardiology Section, Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK.ORCID http://orcid.org/0000-0002-2120-2088
Daniel P GaleDepartment of Renal Medicine, University College London, London, UK.ORCID http://orcid.org/0000-0002-9170-1579
Sonia García-RuizDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Cecilia Gonzalez CorciaPediatric Cardiology, CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-4289-049X
Helen R GriffinNewcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0002-5288-3322
Sophie HambletonNewcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.
Amy R HicksDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID http://orcid.org/0000-0002-3965-5253
Henry HouldenUCL Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-2866-7777
Richard S HoulstonDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.ORCID http://orcid.org/0000-0002-5268-0242
Sarah A HowlesNuffield Department of Surgical Sciences, University of Oxford, Oxford, UK.
Robert KletaDepartment of Renal Medicine, University College London, London, UK.ORCID http://orcid.org/0000-0002-0228-8656
Iris LekkerkerkerDepartment of Genetics, UMC Utrecht, Utrecht, Netherlands.
Siying LinUCL Institute of Ophthalmology, University College London, London, UK.ORCID http://orcid.org/0000-0003-1122-8396
Petra LiskovaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.ORCID http://orcid.org/0000-0001-7834-8486
Hannah H MitchisonGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID http://orcid.org/0000-0002-3163-6293
Heba MorsyDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-9047-0959
Andrew D MumfordSchool of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.
William G NewmanDivision of Evolution, Infection and Genomics, University of Manchester, Manchester, UK.ORCID http://orcid.org/0000-0002-6382-4678
Ruxandra NeatuInstitute of Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK.
Edel A O'TooleCentre for Cell Biology and Cutaneous Research, Blizard Institute, QMUL, London, UK.ORCID http://orcid.org/0000-0002-4084-4836
Albert C M OngKidney Genetics Group, Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.ORCID http://orcid.org/0000-0002-7211-5400
Alistair T PagnamentaCentre for Human Genetics, University of Oxford, Oxford, UK.
Shamima RahmanGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID http://orcid.org/0000-0003-2088-730X
Neil RajanNewcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0002-5850-5680
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID http://orcid.org/0000-0002-0736-9199
Mina RytenGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.ORCID http://orcid.org/0000-0001-9520-6957
Omid Sadeghi-AlavijehDepartment of Renal Medicine, University College London, London, UK.
John A SayerBiosciences Institute, Newcastle University, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0003-1881-3782
Claire L ShovlinNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0001-9007-5775
Jenny C TaylorCentre for Human Genetics, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-3602-5704
Omri TeltshSchool of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Republic of Ireland.
Ian TomlinsonDepartment of Oncology, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-3037-1470
Arianna TucciClinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0001-5644-0070
Clare TurnbullDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.ORCID http://orcid.org/0000-0002-1734-5772
Albertien M van EerdeDepartment of Genetics, UMC Utrecht, Utrecht, Netherlands.
James S WareNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-6110-5880
Laura M WattsCentre for Human Genetics, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-3391-4389
Andrew R WebsterUCL Institute of Ophthalmology, University College London, London, UK.
Sarah K WestburyBristol Medical School, University of Bristol, Bristol, UK.
Sean L ZhengNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-5762-6392
Mark CaulfieldClinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0001-9295-3594
Damian SmedleyClinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK. d.smedley@qmul.ac.uk.ORCID http://orcid.org/0000-0002-5836-9850
Funding
No grant is acknowledged in the PubMed record.
Abstract
Up to 80% of rare disease patients remain undiagnosed after genomic sequencing
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PMID
40011789What OpenQuestion holds
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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.