ArticleNature2020
Whole-genome sequencing of patients with rare diseases in a national health system.
Open access · greenAbstract read
In one paragraph
Article in Nature, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 328 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
328citing papers in PubMed, 4 pooled it
62.6field-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
328 citing papers in PubMed, 4 syntheses or guidelines pooled it, 568 citations in OpenAlex.
- A multiancestry polygenic risk score improves stratification in patients with hypertrophic cardiomyopathy.Nature cardiovascular research · 2026Pooled it
- Detection of repeat expansion variants using next generation sequencing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2026Guideline
- FIGO guideline on liver disease and pregnancy.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Guideline
- Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review.Frontiers in genetics · 2023Pooled it
- A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.Genome medicine · 2026Trial
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.Genome medicine · 2025Trial
- Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.Communications medicine · 2026Review
- Integrative Long-Read Multi-Omics of a Patient With GPI Deficiency: A Molecular Case Study of a Candidate Dual-Effect GPI Variant.Journal of cellular and molecular medicine · 2026Article
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.Journal of medical genetics · 2026Article
- Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.Research square · 2026Article
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Article
- Implementation of a medical genomics program for rare diseases in Uruguay.Orphanet journal of rare diseases · 2026Article
- Analysis of whole genome sequencing and plasma metabolomics unveil genetic determinants and clinical implications for human health.Nature communications · 2026Article
- The Latest on Intrahepatic Cholestasis of Pregnancy - Update 2026.Geburtshilfe und Frauenheilkunde · 2026Article
- Contrast-agent-free visualization of murine embryo-placental vasculature with ultrafast plane-wave ultrasound.Placenta · 2026Article
- From data to drug: the translational impact of RaDaR, the UK national registry of rare kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Review
- Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.Science advances · 2026Article
- Intrahepatic cholestasis of pregnancy and offspring neurodevelopment: bile acid-mediated mechanisms and long-term neurodevelopmental outcomes.Archives of gynecology and obstetrics · 2026Review
- Liver Conditions Specific to Pregnancy: Optimizing Management and Outcomes.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2026Review
- Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.American journal of human genetics · 2026Article
268 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
63 authors at 20 institutions in 16 countries.
Ernest TurroDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. et341@cam.ac.uk.
William J AstleMRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.
Karyn MegyDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Stefan GräfDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Daniel GreeneDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Olga ShamardinaDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Hana Lango AllenDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Alba Sanchis-JuanDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Mattia FrontiniDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Chantal ThysDepartment of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.
Jonathan StephensDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Rutendo MapetaDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Oliver S BurrenDepartment of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Kate DownesDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Matthias HaimelDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Salih TunaDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Sri V V DeeviDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Timothy J AitmanMRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK.
David L BennettThe Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Paul CallejaHigh Performance Computing Service, University of Cambridge, Cambridge, UK.
Keren CarssDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Mark J CaulfieldGenomics England Ltd, London, UK.
Patrick F ChinneryNIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
Peter H DixonWomen and Children's Health, School of Life Course Sciences, King's College London, London, UK.
Daniel P GaleDepartment of Renal Medicine, University College London, London, UK.
Roger JamesDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Ania KoziellKing's College London, London, UK.
Michael A LaffanDepartment of Haematology, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.
Adam P LevineDepartment of Renal Medicine, University College London, London, UK.
Eamonn R MaherDepartment of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Hugh S MarkusStroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Bristol, UK.
Joannella MoralesEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK.
Nicholas W MorrellNIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
Andrew D MumfordSchool of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.
Elizabeth OrmondroydNIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.
Stuart RankinHigh Performance Computing Service, University of Cambridge, Cambridge, UK.
Augusto RendonDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Sylvia RichardsonMRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.
Irene RobertsNIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.
Noemi B A RoyNIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.
Moin A SaleemBristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Bristol, UK.
Kenneth G C SmithDepartment of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Hannah StarkNIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
Rhea Y Y TanStroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Bristol, UK.
Andreas C ThemistocleousThe Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Adrian J ThrasherUCL Great Ormond Street Institute of Child Health, London, UK.
Hugh WatkinsDepartment of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Andrew R WebsterMoorfields Eye Hospital NHS Trust, London, UK.
Martin R WilkinsDepartment of Medicine, Imperial College London, London, UK.
Catherine WilliamsonWomen and Children's Health, School of Life Course Sciences, King's College London, London, UK.
James WhitworthDepartment of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Sean HumphrayIllumina Cambridge, Little Chesterford, UK.
David R BentleyIllumina Cambridge, Little Chesterford, UK.
NIHR BioResource for the 100,000 Genomes Project
Nathalie KingstonDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Neil WalkerDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
John R BradleyNIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
Sofie AshfordNIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.
Christopher J PenkettDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Kathleen FresonDepartment of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.
Kathleen E StirrupsDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
F Lucy RaymondNIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK. flr24@cam.ac.uk.
Willem H OuwehandDepartment of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. who1000@cam.ac.uk.ORCID http://orcid.org/0000-0002-7744-1790
University of Cambridge · GBGuy's and St Thomas' NHS Foundation Trust · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBImperial College Healthcare NHS Trust · GBKing's College London · GBCambridge University Hospitals NHS Foundation Trust · GBCentre for Human Genetics · GBGreat Ormond Street Hospital · GBEuropean Bioinformatics Institute · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBUniversity Hospitals Birmingham NHS Foundation Trust · GBNHS Blood and Transplant · GBNottingham University Hospitals NHS Trust · GBQueen Mary University of London · GBUniversity College London Hospitals NHS Foundation Trust · GBBarts Health NHS Trust · GBJohn Radcliffe Hospital · GBRoyal Brompton & Harefield NHS Foundation Trust · GBRoyal Free London NHS Foundation Trust · GBRoyal Victoria Infirmary · GB
Funding
British Heart Foundation CH/1992001/6764British Heart Foundation FS/18/52/33808British Heart Foundation FS/18/53/33863British Heart Foundation RG/16/4/32218British Heart Foundation SP/12/12/29836Cancer Research UK 28051Cancer Research UK 29034Department of Health RP-2016-07-019European Research Council 309548Medical Research Council G0701386Medical Research Council G0800571Medical Research Council G1000848Medical Research Council G1002528Medical Research Council G1002570Medical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MC_PC_15080Medical Research Council MC_PC_17228Medical Research Council MC_PC_18030Medical Research Council MC_QA137853Medical Research Council MC_U120085815Medical Research Council MR/J011711/1Medical Research Council MR/K020919/1Medical Research Council MR/L006340/1Medical Research Council MR/L019027/1Medical Research Council MR/M009203/1Medical Research Council MR/M012212/1Medical Research Council MR/N010035/1Medical Research Council MR/N025431/1Medical Research Council MR/N025431/2Medical Research Council MR/P02002X/1Medical Research Council MR/R002363/1Medical Research Council MR/R013942/1Medical Research Council MR/S021329/1Medical Research Council MR/S025502/1Wellcome Trust 090532Wellcome Trust 095908Wellcome Trust 098519Wellcome Trust 107469Wellcome Trust 107469/Z/15/ZWellcome Trust 108749Wellcome Trust 109915Wellcome Trust 109915/Z/15/ZWellcome Trust 200990Wellcome Trust 201064Wellcome Trust 201064/Z/16/ZWellcome Trust 202747Wellcome Trust 202747/Z/16/ZWellcome Trust 204809Wellcome Trust 204809/Z/16/ZWellcome Trust 212219Wellcome Trust 212219/Z/18/ZWellcome Trust WT098519MAWellcome Trust WT108749/Z/15/ZWellcome Trust WT200990/Z/16/Z
Abstract
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered
Indexed as
InternationalityNational Health ProgramsWhole Genome SequencingActin-Related Protein 2-3 ComplexAdaptor Proteins, Signal TransducingAllelesDatabases, FactualErythrocytesGATA1 Transcription FactorHumansPhenotypeQuantitative Trait LociRare DiseasesReceptors, ThrombopoietinState MedicineUnited KingdomActin-Related Protein 2-3 ComplexAdaptor Proteins, Signal TransducingARPC1B protein, humanGATA1 protein, humanGATA1 Transcription FactorLRBA protein, humanMPL protein, humanReceptors, Thrombopoietin
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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.