Influence of family history on penetrance of hereditary cancers in a population setting

Autor: L Jackson, MN Weedon, JW Harrison, AR Wood, KS Ruth, J Tyrrell, CF Wright

BackgroundWe sought to investigate how penetrance of familial cancer syndromes varies with family history using a population-based cohort.MethodsWe analysed 454,712 UK Biobank participants with exome sequence and clinical data. We identified particip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5942e3479cbb3e09bb4bb2f1e138256
https://doi.org/10.1101/2022.07.08.22277415

Examining the role of common variants in rare neurodevelopmental conditions.

Autor: Huang QQ; Wellcome Sanger Institute, Hinxton, UK., Wigdor EM; Wellcome Sanger Institute, Hinxton, UK., Malawsky DS; Wellcome Sanger Institute, Hinxton, UK., Campbell P; Wellcome Sanger Institute, Hinxton, UK.; Department of Medical and Molecular Genetics, King's College London, London, UK., Samocha KE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chundru VK; Wellcome Sanger Institute, Hinxton, UK.; Institute of Biomedical and Clinical Science, University of Exeter, Exeter, UK., Danecek P; Wellcome Sanger Institute, Hinxton, UK., Lindsay S; Wellcome Sanger Institute, Hinxton, UK., Marchant T; Wellcome Sanger Institute, Hinxton, UK., Koko M; Wellcome Sanger Institute, Hinxton, UK., Amanat S; Wellcome Sanger Institute, Hinxton, UK., Bonfanti D; Wellcome Sanger Institute, Hinxton, UK., Sheridan E; Wellcome Sanger Institute, Hinxton, UK.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK., Radford EJ; Wellcome Sanger Institute, Hinxton, UK.; Department of Paediatrics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Barrett JC; Wellcome Sanger Institute, Hinxton, UK., Wright CF; Institute of Biomedical and Clinical Science, University of Exeter, Exeter, UK., Firth HV; Wellcome Sanger Institute, Hinxton, UK.; Cambridge University Hospitals Foundation Trust, Addenbrooke's Hospital, Cambridge, UK., Warrier V; Department of Psychiatry, University of Cambridge, Cambridge, UK.; Department of Psychology, University of Cambridge, Cambridge, UK., Strudwick Young A; University of California Los Angeles Anderson School of Management, Los Angeles, CA, USA.; Human Genetics Department, UCLA David Geffen School of Medicine, Los Angeles, CA, USA., Hurles ME; Wellcome Sanger Institute, Hinxton, UK., Martin HC; Wellcome Sanger Institute, Hinxton, UK. hcm@sanger.ac.uk.

Publikováno v: Nature [Nature] 2024 Dec; Vol. 636 (8042), pp. 404-411. Date of Electronic Publication: 2024 Nov 20.

Phenotypic spectrum of dual diagnoses in developmental disorders.

Autor: Ridsdale AM; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK., Dickerson A; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK., Chundru VK; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK., Firth HV; East Anglian Medical Genetics Service, Clinical Genetics, Box 134, Addenbrooke's Treatment Centre, Level 6, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Saffron Walden CB10 1RQ, UK., Wright CF; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK. Electronic address: caroline.wright@exeter.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Nov 07; Vol. 111 (11), pp. 2382-2391. Date of Electronic Publication: 2024 Sep 30.

Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.

Autor: Hawkes G; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK. g.hawkes2@exeter.ac.uk., Beaumont RN; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Li Z; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Mandla R; Department of Medicine, Harvard Medical School, Broad Institute, Boston, Massachusetts, USA., Li X; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Albert CM; Department of Cardiology, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Arnett DK; Provost Office, University of South Carolina, Columbia, SC, USA., Ashley-Koch AE; Department of Medicine, Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, USA., Ashrani AA; Division of Hematology, Department of Medicine, Mayo Clinic Rochester, Rochester, MN, USA., Barnes KC; Department of Medicine, School of Medicine, University of Colorado, Aurora, CO, USA., Boerwinkle E; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Brody JA; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Carson AP; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., Chami N; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Chen YI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Chung MK; Department of Cardiovascular Medicine, Heart, Vascular & Thoracic Institute, Cleveland, OH, USA., Curran JE; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., Darbar D; Division of Cardiology, Department of Medicine, University of Illinois Chicago, Chicago, IL, USA., Ellinor PT; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Fornage M; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Gordeuk VR; Department of Medicine, School of Medicine, University of Illinois at Chicago, Chicago, IL, USA., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., He J; Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA., Hwu CM; Section of Endocrinology and Metabolism, Department of Medicine, Taipei Veterans General Hospital, Taipei City, Taiwan., Kalyani RR; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Kaplan R; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA., Kardia SLR; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Kooperberg C; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Lubitz SA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Minster RL; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA., Naseri T; Naseri & Associates Public Health Consultancy Firm and Family Health Clinic, Apia, Samoa.; International Health Institute, Brown University, Providence, Rhode Island, US., Viali S; Oceania University of Medicine, Apia, Samoa.; School of Medicine, National University of Samoa, Apia, Samoa.; Dept of Chronic Disease Epidemiology, Yale University, New Haven, Connecticut, US., Mitchell BD; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Murabito JM; Boston University's and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA., Palmer ND; Department of Biochemistry, Wake Forest University School of Medicine, Winston-, Salem, NC, USA., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.; Departments of Medicine, Epidemiology, and Health Systems and Population Health, University of Washington, Seattle, WA, USA., Redline S; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA., Shoemaker MB; Department of Medicine, Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Silverman EK; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Telen MJ; Department of Medicine, Duke University School of Medicine, Durham, NC, USA., Weiss ST; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Yanek LR; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Zhou H; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Liu CT; Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA., North KE; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Justice AE; Population Health Sciences, Geisinger, Danville, PA, USA., Locke JM; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Owens N; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Murray A; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Patel K; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Frayling TM; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Wright CF; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Wood AR; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Lin X; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Statistics, Harvard University, Cambridge, MA, USA., Manning A; Department of Medicine, Harvard Medical School, Broad Institute, Boston, Massachusetts, USA., Weedon MN; Clinical and Biomedical Sciences, University of Exeter, Exeter, UK. m.n.weedon@exeter.ac.uk.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 03; Vol. 15 (1), pp. 8549. Date of Electronic Publication: 2024 Oct 03.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Autor: Rawlins LE; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree), Gladstone Road, Exeter, UK. Electronic address: L.Rawlins@exeter.ac.uk., Maroofian R; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Cannon SJ; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., Daana M; Child Development Center, Clalit health care services, Jerusalem., Zamani M; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Ghani S; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Leslie JS; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., Ubeyratna N; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., Khan N; Interdisciplinary Nanoscience Center, Gustav Wieds Vej 14, Aarhus University, Aarhus 8000, Denmark., Khan H; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Scardamaglia A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Cloarec R; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille., Khan SA; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Umair M; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Galehdari H; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman., Al-Kindi A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman., Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Ahmad F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Rodriguez Cruz PM; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Centro Nacional de Análisis Genómico, Barcelona, Spain; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal., Salazar-Villacorta A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Ndiaye M; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal., Diop AG; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal., Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany., Owrang D; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany., Alhashem AM; Department of Radiology, Prince Sultan Medical Military City, Riyadh, Saudi Arabia., Obeid M; The American University of Beirut, Beirut, Lebanon., Khan A; Faculty of Biological Sciences, Department of Zoology, University of Lakki Marwat, Lakki, Khyber Pakhtunkhwa, Pakistan; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beydoun A; The American University of Beirut, Beirut, Lebanon., Najjar M; The American University of Beirut, Beirut, Lebanon., Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skovde, Skovde, Sweden., Zifarelli G; Centogene GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; Centogene GmbH, Am Strande 7, 18055 Rostock, Germany., Hakami WS; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia., Hashem AMA; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia., Boustany RN; The American University of Beirut, Beirut, Lebanon., Burglen L; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France; Centre de Référence des Malformations et Maladies congénitales du cervelet et Département de génétique, Hôpital Trousseau, APHP, Sorbonne Université, 26 avenue du Dr A Netter 75012 Paris, France., Alavi S; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Palindrome, Isfahan, Iran., Gunning AC; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Owens M; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Milh M; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille; Aix-Marseille Université, APHM, service de neurologie pédiatrique, Hôpital de la Timone-Enfants, Marseille., Salah S; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem., Khan J; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Haucke V; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Str. 10, Berlin, Germany; Department of Biology, Chemistry, Pharmacy, Freie Universita¨t Berlin, 14195 Berlin, Germany., Wright CF; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK; University of Plymouth, Plymouth, UK., Elpeleg O; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem., Shabbir MI; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Houlden H; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Ebner M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Str. 10, Berlin, Germany., Baple EL; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree), Gladstone Road, Exeter, UK. Electronic address: E.Baple@exeter.ac.uk., Crosby AH; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK. Electronic address: A.H.Crosby@exeter.ac.uk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 20, pp. 101278. Date of Electronic Publication: 2024 Sep 20.