Database Statistics

Patients and Variants

29,194 open-access patient records
90,578 phenotype observations in these patients
31,426 open-access copy-number variants
6,411 open-access sequence variants

Patients in DECIPHER

Right: Open-access patient records in DECIPHER by creation date (these figures are not cumulative).

Sequence Variants in DECIPHER

Left: The genes in DECIPHER with the most sequence variants (open-access data only)

These are: ANKRD11, ARID1B, KMT2A, DDX3X, MED13L, MECP2, CREBBP, SYNGAP1, DYRK1A, SETD5.

Publications

DECIPHER assists the global clinical genetics community in identifying previously undiagnosed syndromes and new disease genes, and has facilitated over 1000 peer-reviewed scientific publications since 2004.

Right: Citations of DECIPHER by year of publication (these figures are not cumulative).

Collaboration

All Projects
  • Academic Medical Center, Amsterdam, The Netherlands
  • Azienda Ospedaliera Ospedale di Circolo e Fondazione Macchi, Varese, Italy
  • Azienda Ospedaliero-Universitaria, Cagliari, Italy
  • Bartholinbygningen, Aarhus University Hospital, Denmark
  • Baylor College of Medicine, Texas, USA
  • BGI-Shenzhen, Shenzhen, China
  • Boston Children's Hospital
  • British Columbia's Children's Hospital, Vancouver, Canada
  • Cambridge Stickler Syndrome, Cambridge, UK
  • Cambridge University Dept of Medical Genetics, Cambridge, UK
  • Canterbury Health Laboratories, Christchurch, New Zealand
  • Cantonal Hospital Aarau, Switzerland
  • Center for Human Genetics, Leuven, Belgium
  • Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
  • Centre de Biologie et de Pathologie Est, Bron CEDEX, France
  • Centre de Genetique de l'ULB-Hopital Erasme, Universite Libre de Bruxelles
  • Centre de Génétique Humaine, Besançon, France
  • Centre de Genetique Humaine UCL, Brussels, Belgium
  • Centre for Genomic Medicine, University of Manchester
  • Cerrahpasa Tip Fakultesi Kocamustafapasa, Fatih, Istanbul
  • Child and Family Research Institute, Vancouver, Canada
  • Children's Hospital, Aurora, CO, US
  • Children’s Hospital Meyer - University of Florence
  • Children's Hospital of Capital Institute of Pediatrics
  • Children's Hospital of Wisconsin, USA
  • Childrens Hospital Westmead, Sydney, Australia
  • Chinese University of Hong Kong
  • CHU Caen, France
  • CHU de Poitiers, Poitiers
  • Clinical Exome Diagnostic Project, Cambridge, UK
  • Clinical Genetics Centre, Aberdeen, UK
  • Clinical Genetics, CHU de Dijon, Burgundy University
  • Clinical Genetics, Dresden, Germany
  • Clinical Genetic Service, Department of Health, Hong Kong
  • Clinical Genetics - MRC Edinburgh
  • Clinical Genetics, Odense University Hospital
  • Clinical Genetics, Umea, Sweden
  • Clinical Genetics, University Hospital Linkoping, Sweden
  • Clinical Genetics, University Hospital Maastricht
  • Columbia University, New York, USA
  • Credit Valley Hospital, Mississauga, Canada
  • CSS-Mendel Institute, Rome, Italy
  • DDD Study, Aberdeen
  • DDD Study, Belfast
  • DDD Study, Birmingham
  • DDD Study, Bristol
  • DDD Study, Cambridge
  • DDD Study, Dublin
  • DDD Study, Dundee
  • DDD Study, Edinburgh
  • DDD Study, Exeter
  • DDD Study, Glasgow
  • DDD Study, GOSH, London
  • DDD Study, Guy's, London
  • DDD Study, Leeds
  • DDD Study, Leicester
  • DDD Study, Liverpool
  • DDD Study, Manchester
  • DDD Study, Newcastle
  • DDD Study, Nottingham
  • DDD Study, NW Thames, London
  • DDD Study, Oxford
  • DDD Study, Sheffield
  • DDD Study, St George's, London
  • DDD Study, Wales
  • DDD Study, Wessex
  • Department of Clinical Genetics, Helsinki University Central, Finland
  • Department of Fetal Medicine, Shanghai First Maternity and Infant Hospital, Shanghai, China
  • Department of genetics biology and biochemistry
  • Department of Human and Medical Genetics, Vilnius University, Lithuania
  • Department of Laboratory and Genetic Medicine, Switzerland
  • Department of Medical Genetics, University and University Hospital Antwerp
  • Department of Medical Genetics, University Hospital, Brno, Czech Republic
  • Department of Pediatrics/medical Genetics, University of Iowa, USA
  • Department of Pediatrics, Salzburg, Austria
  • Diagnostic Genetics, LabPlus, Auckland, New Zealand
  • Division of Medical Genetics, Genova, Italy
  • Einstein Healthcare Network Genetics, USA
  • EJMG Exome Reports
  • ErasmusMC, Dept. Clinical Genetics, Rotterdam
  • ESPIC Hôpitaux pédiatriques de Nice CHU-Lenval, France
  • Eye Clinic, St James's University Hospital, Leeds, UK
  • Federal University of Sao Paulo, Brazil
  • Federico II University Naples, Italy
  • FUNDACION RIOJA SALUD, Spain
  • Genetic Department, Hospital Kuala Lumpur, Malaysia
  • Genetics Center CHOC, Orange, USA
  • Genetic Services of Western Australia, King Edward Memorial Hospital
  • Genetics of Learning Disability and IMAGINE ID project
  • Ghent University Hospital, Ghent, Belgium
  • Great Ormond Street Hospital, London, UK
  • Guys Hospital, London, UK
  • Harvard Medical School, Boston, USA
  • Haukeland University Hospital, Bergen, Norway
  • Hawaii Community Genetics, USA
  • Heinrich Heine University, Duesseldorf , Germany
  • Hopital Couple Enfant, Grenoble, France
  • Hopital Jeanne de Flandre, Lille, France
  • Hopital Maison Blanche, Reims, France
  • Hopital Pitie-Salpetriere, Paris, France
  • Hopital Timone Enfants, Marseille, France
  • Hospital Arnaud de Villeneuve
  • Hospital Bambino Gesu, Rome
  • Hospital Clínico Universidad de Chile, Santiago, Chile.
  • Hospital for Sick Children, Toronto, Canada
  • Hospital Infantil Universitario Niño Jesús, Madrid, Spain
  • Hospital Padre Hurtado, Santiago, Chile
  • Hospital Santa Maria della Misericordia, Perugia, Italy
  • Hospital Santa Maria, Lisbon
  • Hospital Universitari de Girona Dr. Josep Trueta, Spain
  • Hospital Universitario Donostia
  • Hunter Array Group, Australia
  • INGEMM, Hospital Universitario La Paz, Madrid
  • Innsbruck Medical University
  • Institute for Medical Research, Malaysia
  • Institute of Human Genetics, Hannover, Germany
  • Institute of Human Genetics, Heidleberg, Germany
  • Institute of Human Genetics, Leipzig, Germany
  • Institute of Human Genetics, University of Ulm, Germany
  • Institute of Mother and Child. Poland
  • Institute of Ophthalmology and Moorfields Eye Hospital, UCL, London
  • Institut fur Humangenetik der Universitat Bonn, Germany
  • Institut fur Humangenetik, Dusseldorf, Germany
  • Institut fur Humangenetik, Erlangen, Germany
  • Institut fur Humangenetik, Essen, Germany
  • Institut fur Humangenetik, Kiel
  • Institut fur Humangenetik, Universitatsklinikum Muenster, Germany
  • Institut fur Humangenetik, Wuerzburg, Germany
  • Institut of Human Genetics, Technische Universitat Munchen
  • Inst. of Pathology and Genetics, Gosselies, Belgium
  • Istituto Auxologico Italiano, Milan, Italy
  • Istituto di Genetica Medica, Università Cattolica del Sacro Cuore
  • Istituto G.Gaslini, Italy
  • Karolinska University Hospital, Stockholm, Sweden
  • Kennedy Centre, Glostrup, Denmark
  • Kennedy Krieger Institute, Johns Hopkins School of Medicine
  • King Faisal Specialist Hospital and Research Center, Saudi Arabia
  • Kingston General Hospital, Ontario, Canada
  • KK Women's and Children's Hospital, Singapore, SG
  • Laboratoire de Genetique, Centre Hospitalier Universitaire d'Amiens, Amiens
  • Laboratório de Citogenética e Genómica, Universidade de Coimbra, Portugal
  • Laboratorio di Diagnosi Genetica, Troina, Italy
  • Laboratory of Cytogenetics, CHU Pontchaillou, Rennes, France
  • Laboratory of Medical Genetics, University Medical Centre Maribor, Slovenia
  • Landspitali - University Hospital, Reykjavik, Iceland
  • Leeds Genetics - Research Variants
  • Leicestershire Genetics Centre
  • Leiden University Medical Center, Leiden, The Netherlands
  • Leuven - X-Linked Disorders
  • Maritime Medical Genetics Service, Dalhousie University and Medical School, Canada
  • Medical Genetics Laboratory, Victor Babes National Institute of Pathology, Romania
  • Medical Genetics Service, San Giovani Rotundo, Italy
  • Medical Genetics Unit, Ferrara University Hospital, Italy
  • Medical Genetic Unit, Bari, Italy
  • Medical University of Graz, Austria
  • Mental Health Sciences Unit, UCL
  • Merseyside and Cheshire Regional Genetics Service
  • Mitochondrial GCiP, UK
  • Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany
  • Molecular Genetics of Craniosynostosis
  • Mount Sinai Hospital, Sinai Health System, Toronto, Canada
  • Mount Sinai School of Medicine, NY
  • MRC Human Genetics Unit, Edinburgh, UK
  • Multiple pterygium syndrome
  • National Centre for Medical Genetics, Our Lady's Hospital, Dublin
  • National Hospital for Neurology and Neurosurgery
  • Necker Hospital, Paris, France
  • Nepean Hospital, Penrith, Australia
  • New York Medical College
  • NGS Newcastle Fetal Study
  • NHS Birmingham
  • NHS Exeter
  • NHS Leeds
  • NIHR Bioresource Rare Disease
  • Ninewells Hospital & Medical School, Dundee
  • Northern Genetics Service, Newcastle, UK
  • Northern Ireland Regional Genetics Centre
  • North West Thames Regional Genetics Service, London
  • Nottingham Centre for Medical Genetics
  • Oxford HICF
  • Oxford Regional Genetics Service, Oxford, UK
  • Oxford Regional Genetics Service, Oxford, UK
  • Paris VII university, France
  • Pediatrics, Torino, Italy
  • Pontifical Catholic University of Goiás, Brazil
  • Pontificia Universidade Catolica Do Parana, Curibita, Brazil
  • Poznan University of Medical Sciences, Poland
  • PPP Translocations - MRC Edinburgh
  • Praxis fuer Humangenetik / Saarland University
  • Published Data
  • Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Rady Children's Hospital San Diego
  • Rady Childrens Hospital, UCSD
  • Rikshospitalet Oslo University Hospital, Oslo, Norway
  • Rinnekoti Foundation, Laboratory of Genetics
  • Robert Wood Johnson Medical School, New Brunswick, USA
  • Royal Brompton and Harefield NHS Foundation Trust
  • Royal Children's Hospital, Melbourne, Australia
  • Royal Columbian Hospital, New Westminster, Canada
  • Royal Marsden - Institute of Cancer Research
  • Royal North Shore Hospital, Australia
  • Royal Prince Alfred Hospital, Campersown, Australia
  • Royal Victoria Infirmary, Department of Dermatology, Newcastle
  • Sahlgrenska University Hospital, Sweden
  • Sao Paulo, Leiden joint project
  • S.C. di Genetica Medica, Trieste, Italy
  • Scottish Clinical Exomes - clinical exome analyses by Scottish NHS and funded by NSD
  • Service de Genetique Medicale, CHU, Toulouse, France
  • Service de Genetique, Nancy University Hospital, France
  • Service de Genetique, Nantes, France
  • Service de Medecine Genetique, CHUV, Lausanne, Switzerland
  • Servizio Di Genetica, Cremona, Italy
  • Shaare Zedek Medical Center, Jerusalem, Israel
  • Sheffield Genetics Service, UK
  • Stanford University - Pediatrics/Medical Genetics
  • St Georges, London
  • St Mary's Hospital, Manchester, UK
  • St Michael's Hospital, Bristol, UK
  • St. Olav's University Hospital, Trondheim, Norway
  • Sydney Children's Hospital, Australia
  • Telemark Hospital Trust, Skien, Norway
  • The Cyprus Institute of Neurology & Genetics
  • The Folkh lsan Department of Medical Genetics, Helsinki, Finland
  • The Royal Brisbane and Women's Hospital
  • The Royal London Hospital
  • Tokyo Medical and Dental University, Tokyo, Japan
  • Tokyo Women's Medical University, Japan
  • Tsan Yuk Hospital, University of Hong Kong
  • Turku University Hospital, Finland
  • UCLA Health System, Los Angeles, USA
  • Undiagnosed Diseases Program, National Institutes of Health, USA
  • Unidad de Genetica, Hospital Universitari i Politecnic La Fe, Valencia, Spain
  • Unidad de Genetica, Madrid, Spain
  • Universidad de Zaragoza, Spain
  • Universidade Federal de Minas Gerais, Brazil
  • Universidade Federal de Santa Catarina, Brazil
  • Universita di Pavia, Italy
  • Universita "G. D'Annunzio", Italy
  • Universitätsklinikum Giessen und Marburg / Standort Giessen, Germany
  • Universitatsmedizin Berlin, Germany
  • University and Regional Laboratories, Lund University, Sweden
  • University Hospital of Copenhagen, Denmark
  • University Hospital of North Norway, Tromsø
  • University Hospital of Padua, Italy
  • University Hospital of Wales, Cardiff, UK
  • University of Adelaide, Australia
  • University of Athens Medical School, Athens, Greece
  • University of California San Francisco (UCSF), USA
  • University of Freiburg, Germany
  • University of Minho, Braga, Portugal
  • University of Sao Paulo, Sao Paulo, Brazil
  • University of Siena, Italy
  • University of Texas Medical Branch, Galveston, USA
  • University of Texas Southwestern Medical School, USA
  • University of the Witwatersrand Teaching Hospitals
  • University of Utah, USA
  • University of Zurich, Institute of Medical Genetics
  • U.O.C. di Genetica Medica, Benevento, Italy
  • Uppsala University Children's Hospital, Sweden
  • Vaestoliitto, Helsinki. Finland
  • Vall d'Hebron University Hospital, Barcelona, Spain
  • Vejle Hospital, Denmark
  • VU University Medical Centre, The Netherlands
  • Washington - Oxford joint project
  • Washington University School of Medicine. USA
  • Wellington Hospital, New Zealand
  • Wessex Clinical Genetics Service, Southampton, UK
  • West of Scotland Regional Genetics Service, Glasgow, UK
  • Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen, Denmark
  • Yorkshire Regional Genetics, Leeds
DECIPHER is a collaboration between 264 projects across the globe.
There are 6 consortia within DECIPHER
  54 projects are members of at least one consortium.
54,064 patient records in consortia
121,920 phenotype observations in these patients
54,016 copy-number variants in consortia
21,796 sequence variants in consortia

Resources

These resources are among those available to DECIPHER users through the Genoverse genome browser.

DECIPHER users can cross-refer to 40,168 copy-number variants from ISCA
and another 163,298 sequence variants from LSDB.
There are also 417,488 sequence variants from ClinVar,
  223,342,519 sequence variants from gnomAD,
and another 139,452 sequence variants from HGMD.

Deciphering Developmental Disorders findings

These findings are available to DECIPHER users through the Genoverse genome browser. For more information on these findings and the Deciphering Developmental Disorders (DDD) project from which they are taken, see the dedicated DDD section.

2,723 sequence variants of unknown significance
1,792 genes implicated in developmental disorders