换一批
换一批Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
作者：
Alistair T,Pagnamenta [1]
;
Carme,Camps [1]
;
Edoardo,Giacopuzzi [2]
;
John M,Taylor [3]
;
Mona,Hashim [1]
;
Eduardo,Calpena [4]
;
Pamela J,Kaisaki [1]
;
Akiko,Hashimoto [5]
;
Jing,Yu [1]
;
Edward,Sanders [5]
;
Ron,Schwessinger [5]
;
Jim R,Hughes [5]
;
Gerton,Lunter [6]
;
Helene,Dreau [7]
;
Matteo,Ferla [1]
;
Lukas,Lange [1]
;
Yesim,Kesim [1]
;
Vassilis,Ragoussis [1]
;
Dimitrios V,Vavoulis [8]
;
Holger,Allroggen [9]
;
Olaf,Ansorge [10]
;
Christian,Babbs [5]
;
Siddharth,Banka [11]
;
Benito,Baños-Piñero [12]
;
David,Beeson [13]
;
Tal,Ben-Ami [14]
;
David L,Bennett [10]
;
Celeste,Bento [15]
;
Edward,Blair [16]
;
Charlotte,Brasch-Andersen [17]
;
Katherine R,Bull [18]
;
Holger,Cario [19]
;
Deirdre,Cilliers [20]
;
Valerio,Conti [21]
;
E Graham,Davies [22]
;
Fatima,Dhalla [23]
;
Beatriz Diez,Dacal [12]
;
Yin,Dong [13]
;
James E,Dunford [24]
;
Renzo,Guerrini [21]
;
Adrian L,Harris [25]
;
Jane,Hartley [26]
;
Georg,Hollander [27]
;
Kassim,Javaid [24]
;
Maureen,Kane [28]
;
Deirdre,Kelly [26]
;
Dominic,Kelly [29]
;
Samantha J L,Knight [1]
;
Alexandra Y,Kreins [22]
;
Erika M,Kvikstad [1]
;
Craig B,Langman [30]
;
Tracy,Lester [12]
;
Kate E,Lines [31]
;
Simon R,Lord [32]
;
Xin,Lu [33]
;
Sahar,Mansour [34]
;
Adnan,Manzur [35]
;
Reza,Maroofian [36]
;
Brian,Marsden [37]
;
Joanne,Mason [38]
;
Simon J,McGowan [5]
;
Davide,Mei [21]
;
Hana,Mlcochova [5]
;
Yoshiko,Murakami [39]
;
Andrea H,Németh [40]
;
Steven,Okoli [41]
;
Elizabeth,Ormondroyd [42]
;
Lilian Bomme,Ousager [17]
;
Jacqueline,Palace [10]
;
Smita Y,Patel [43]
;
Melissa M,Pentony [1]
;
Chris,Pugh [44]
;
Aboulfazl,Rad [45]
;
Archana,Ramesh [46]
;
Simone G,Riva [5]
;
Irene,Roberts [47]
;
Noémi,Roy [48]
;
Outi,Salminen [7]
;
Kyleen D,Schilling [49]
;
Caroline,Scott [5]
;
Arjune,Sen [10]
;
Conrad,Smith [12]
;
Mark,Stevenson [50]
;
Rajesh V,Thakker [50]
;
Stephen R F,Twigg [5]
;
Holm H,Uhlig [51]
;
Richard,van Wijk [52]
;
Barbara,Vona [53]
;
Steven,Wall [54]
;
Jing,Wang [10]
;
Hugh,Watkins [42]
;
Jaroslav,Zak [55]
;
Anna H,Schuh [56]
;
Usha,Kini [16]
;
Andrew O M,Wilkie [4]
;
Niko,Popitsch [57]
;
Jenny C,Taylor [58]
作者单位：
Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.;NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
[1]
Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.;NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;Human Technopole, Viale Rita Levi Montalcini 1, 20157, Milan, Italy.
[2]
NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
[3]
NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
[4]
MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
[5]
MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.;University Medical Center Groningen, Groningen University, PO Box 72, 9700 AB, Groningen, The Netherlands.
[6]
NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
[7]
Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.;NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
[8]
Neurosciences Department, UHCW NHS Trust, Clifford Bridge Road, Coventry, CV2 2DX, UK.
[9]
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
[10]
Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.;Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.
[11]
Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Old Road, Oxford, OX3 7LE, UK.
[12]
MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.;Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
[13]
Pediatric Hematology-Oncology Unit, Kaplan Medical Center, Rehovot, Israel.
[14]
Hematology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
[15]
NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK.
[16]
Department of Clinical Genetics, Odense University Hospital and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
[17]
Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.;Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK.
[18]
Department of Pediatrics and Adolescent Medicine, University Medical Center, Eythstrasse 24, 89075, Ulm, Germany.
[19]
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK.
[20]
Neuroscience Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Florence, Italy.
[21]
Department of Immunology, Great Ormond Street Hospital for Children NHS Trust and UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research, 2Nd Floor, 20C Guilford Street, London, WC1N 1DZ, UK.
[22]
Department of Paediatrics, Institute of Developmental and Regenerative Medicine, IMS-Tetsuya Nakamura Building, Old Road Campus, Roosevelt Drive, Oxford, OX3 7TY, UK.
[23]
Oxford NIHR Musculoskeletal BRC and Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Nuffield Orthopaedic Centre, Old Road, Oxford, OX3 7HE, UK.
[24]
Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK.
[25]
Liver Unit, Birmingham Women's & Children's Hospital and University of Birmingham, Steelhouse Lane, Birmingham, B4 6NH, UK.
[26]
Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
[27]
Department of Pharmaceutical Sciences, School of Pharmacy, University of Maryland, Pharmacy Hall North, Room 731, 20 N. Pine Street, Baltimore, MD, 21201, USA.
[28]
Children's Hospital, OUH NHS Foundation Trust, NIHR Oxford BRC, Headley Way, Oxford, OX3 9DU, UK.
[29]
Feinberg School of Medicine, Northwestern University, 211 E Chicago Avenue, Chicago, IL, MS37, USA.
[30]
NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital, Oxford, OX3 7LJ, UK.
[31]
Early Phase Clinical Trials Unit, Department of Oncology, University of Oxford, Cancer and Haematology Centre, Level 2 Administration Area, Churchill Hospital, Oxford, OX3 7LJ, UK.
[32]
Nuffield Department of Clinical Medicine, Ludwig Institute for Cancer Research, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK.
[33]
St George's University Hospitals NHS Foundation Trust, Blackshore Road, Tooting, London, SW17 0QT, UK.
[34]
MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
[35]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.
[36]
Nuffield Department of Medicine, Kennedy Institute, University of Oxford, Oxford, OX3 7BN, UK.
[37]
Yourgene Health Headquarters, Skelton House, Lloyd Street North, Manchester Science Park, Manchester, M15 6SH, UK.
[38]
Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
[39]
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.;Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7LE, UK.
[40]
Imperial College NHS Trust, Department of Haematology, Hammersmith Hospital, Du Cane Road, London, W12 0HS, UK.
[41]
NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;University of Oxford, Level 6 West Wing, Oxford, OX3 9DU, JR, UK.
[42]
Clinical Immunology, John Radcliffe Hospital, Level 4A, Oxford, OX3 9DU, UK.
[43]
Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7BN, UK.
[44]
Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, Elfriede-Aulhorn-Str. 5, 72076, Tübingen, Germany.
[45]
Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.;Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
[46]
MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.;Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
[47]
Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Level 4, Haematology, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
[48]
Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Chicago, IL, 60611, USA.
[49]
University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital, Oxford, OX3 7LJ, UK.
[50]
NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;Department of Paediatrics, University of Oxford, Level 2, Children's Hospital, John Radcliffe Hospital, Oxford, OX3 9DU, UK.;Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
[51]
UMC Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.
[52]
Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, Elfriede-Aulhorn-Str. 5, 72076, Tübingen, Germany.;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.
[53]
Oxford Craniofacial Unit, John Radcliffe Hospital, Level LG1, West Wing, Oxford, OX3 9DU, UK.
[54]
Nuffield Department of Clinical Medicine, Ludwig Institute for Cancer Research, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, UK.;Department of Immunology and Microbiology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA, 92037, USA.
[55]
Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
[56]
Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK.;NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.;Department of Biochemistry and Cell Biology, Max Perutz Labs, University of Vienna, Vienna BioCenter(VBC), Dr.-Bohr-Gasse 9, 1030, Vienna, Austria.
[57]
Wellcome Centre for Human Genetics, University of Oxford, Old Road Campus, Roosevelt Drive, Oxford, OX3 7BN, UK. jenny.taylor@well.ox.ac.uk.;NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK. jenny.taylor@well.ox.ac.uk.
[58]
主题词
人类(Humans);遗传变异(Genetic Variation);少见病(Rare Diseases);基因检测(Genetic Testing);突变(Mutation);细胞周期蛋白质类(Cell Cycle Proteins)
DOI
10.1186/s13073-023-01240-0
PMID
37946251
发布时间
2025-02-05
- 浏览1
Genome medicine
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