ArticleCell2023
Influence of autozygosity on common disease risk across the phenotypic spectrum.
Abstract read
In one paragraph
Article in Cell, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 2 pooled it
–field-weighted citation impact
What it found
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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.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases.American journal of human genetics · 2026Pooled it
- Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts.American journal of human genetics · 2023Pooled it
- Genotypic and phenotypic consequences of domestication in dogs.G3 (Bethesda, Md.) · 2026Article
- Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.Nature genetics · 2026Article
- Article
- A genomics health strategy for the Arabian Gulf.Nature medicine · 2026Article
- Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.Nature genetics · 2026Article
- Race, ethnicity and ancestry in global diabetes research: grappling with complexity to advance equity and scientific integrity - a narrative review and viewpoint.Diabetologia · 2025Review
- Genotypic and phenotypic consequences of domestication in dogs.bioRxiv : the preprint server for biology · 2025Article
- Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity.American journal of human genetics · 2025Article
- A genomic tale of inbreeding in western Mediterranean human populations.Human genetics · 2025Article
- South Asians and cardiometabolic health: A framework for comprehensive care for the individual, community, and population - An American society for preventive cardiology clinical practice statement.American journal of preventive cardiology · 2025Article
- Neanderthal introgressed ancestry reveals human genomic regions enriched with recessive deleterious mutations.bioRxiv : the preprint server for biology · 2025Article
- A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.NPJ genomic medicine · 2025Article
- Genomics of rare diseases in the Greater Middle East.Nature genetics · 2025Review
- Evolution, genetic diversity, and health.Nature medicine · 2025Review
- Parental Consanguinity and Family History in Relation to Psoriasis and the Role of Sex: A Case-Control Study.Human heredity · 2025Article
- Genetic architecture of routinely acquired blood tests in a British South Asian cohort.Nature communications · 2024Article
- Constraining models of dominance for nonsynonymous mutations in the human genome.PLoS genetics · 2024Article
- Measuring the Efficiency of Purging by non-random Mating in Human Populations.Molecular biology and evolution · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors.
Daniel S MalawskyWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. Electronic address: dm22@sanger.ac.uk.
Eva van WalreeDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Amsterdam, Amsterdam, the Netherlands.
Benjamin M JacobsBlizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK; Wolfson Institute of Population Health, Queen Mary University of London, London, UK.
Teng Hiang HengWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Qin Qin HuangWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Ataf H SabirWest Midlands Regional Clinical Genetics Unit, Birmingham Women's and Children's NHS FT, Birmingham, UK; Institute of Cancer and Genomics, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Saadia RahmanQueen Square Institute of Neurology, University College London, London, UK.
Saghira Malik SharifYorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
Ahsan KhanWaltham Forest Council, Waltham Forest Town Hall, Forest Road, Walthamstow E17 4JF, UK.
Maša Umićević MirkovCongenica Limited, BioData Innovation Centre, Wellcome Genome Campus, Hinxton, UK.
23andMe Research Team
Genes & Health Research Team
Hiroyuki KuwaharaKing Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal 23955, Saudi Arabia.
Xin GaoKing Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal 23955, Saudi Arabia.
Fowzan S AlkurayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Danielle PosthumaDepartment of Complex Trait Genetics Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Amsterdam, Amsterdam, the Netherlands.
William G NewmanDivision of Evolution, Infection and Genomics, Faculty of Biology, Medicine and Human Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.
Christopher J GriffithsWolfson Institute of Population Health, Queen Mary University of London, London, UK; MRC and Asthma UK Centre in Allergic Mechanisms of Asthma, King's College London, London, UK.
Rohini MathurWolfson Institute of Population Health, Queen Mary University of London, London, UK.
David A van HeelBlizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Sarah FinerBlizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK; Wolfson Institute of Population Health, Queen Mary University of London, London, UK.
Jared O'Connell23andMe, Inc., Sunnyvale, CA, USA.
Hilary C MartinWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. Electronic address: hcm@sanger.ac.uk.
Funding
Medical Research Council M009017Medical Research Council MR/S027297/1Medical Research Council MR/V028766/1Medical Research Council MR/X009777/1Wellcome Trust 210561/Z/18/ZWellcome Trust 220540/Z/20/AWellcome Trust WT102627Wellcome Trust WT210561
Abstract
Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative traits. We investigated associations between the fraction of the genome in runs of homozygosity (F
Indexed as
ConsanguinityDiabetes Mellitus, Type 2Biological Specimen BanksGenetic Predisposition to DiseaseGenome, HumanHomozygoteHumansPhenotypePolymorphism, Single NucleotideUnited Kingdomautozygositycommon diseasesconsanguinitydiverse cohortsmedical geneticsrecessive
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
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.