Towards an evidence-based process for the clinical interpretation of copy number variation.

Autor: Riggs, ER, Church, DM, Hanson, K, Horner, VL, Kaminsky, EB, Kuhn, RM, Wain, KE, Williams, ES, Aradhya, S, Kearney, HM, Ledbetter, DH, South, ST, Thorland, EC, Martin, CL

Publikováno v: Clinical Genetics; May2012, Vol. 81 Issue 5, p403-412, 10p, 2 Diagrams

Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.

Autor: Wright MW; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Thaxton CL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Nelson T; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., DiStefano MT; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Savatt JM; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Brush MH; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Cheung G; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Mandell ME; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Wulf B; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Ward TJ; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Goehringer S; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., O'Neill T; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Weller P; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Preston CG; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Keseler IM; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Goldstein JL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Strande NT; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., McGlaughon J; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Azzariti DR; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Cordova I; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Dziadzio H; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Riehle K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Martin CL; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Plon SE; Department of Pediatrics, Division of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Riggs ER; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Klein TE; Departments of Medicine (Biomedical Informatics Research) and Genetics, Stanford University School of Medicine, Stanford, California, USA.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.

Publikováno v: Annual review of biomedical data science [Annu Rev Biomed Data Sci] 2024 Aug; Vol. 7 (1), pp. 31-50. Date of Electronic Publication: 2024 Jul 24.

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.

Autor: Schmidt RJ; Children's Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA. Electronic address: rschmidt@chla.usc.edu., Steeves M; Color Health, Burlingame, CA., Bayrak-Toydemir P; Department of Pathology, University of Utah Molecular Genetics and Genomics, ARUP Laboratories, Salt Lake City, UT., Benson KA; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Ireland., Coe BP; Department of Pathology & Lab Medicine, BC Children's & BC Women's Hospitals, Vancouver, Canada., Conlin LK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA., Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Garcia J; Invitae, San Francisco, CA., Gollob MH; Inherited Arrhythmia and Cardiomyopathy Program, Division of Cardiology, Toronto General Hospital and Department of Physiology, University of Toronto, Toronto, Ontario, Canada., Jobanputra V; New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Luo M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA., Ma D; DNA diagnostic lab, Department of Genetics, School of Medicine, Yale University, New Haven, CT., Maston G; Quest Diagnostics, Inc., Hillsboro, OR., McGoldrick K; Ambry Genetics, Aliso Viejo, CA., Palculict TB; GeneDx, Gaithersburg, MD., Pesaran T; Ambry Genetics, Aliso Viejo, CA., Pollin TI; University of Maryland School of Medicine, Baltimore, MD., Qian E; Department of Genetics, Yale University School of Medicine, New Haven, CT., Rehm HL; Center for Genomics Medicine, Massachusetts General Hospital, Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Riggs ER; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA., Schilit SLP; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Boston, MA., Sergouniotis PI; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, United Kingdom., Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA., Watkins N; Department of Pathology and Laboratory Medicine, Sinai Health System, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Canada., Zec L; Natera, Inc., Austin, TX., Zhang W; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH., Lebo MS; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: mlebo@bwh.harvard.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Mar; Vol. 26 (3), pp. 101036. Date of Electronic Publication: 2023 Dec 03.

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.

Autor: Roberts AM; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London, United Kingdom. Electronic address: angharad.roberts@imperial.ac.uk., DiStefano MT; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Riggs ER; Geisinger Autism and Developmental Medicine Institute, Danville, PA., Josephs KS; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia., Amberger J; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Amin M; INSERM, US14-Orphanet, Paris, France., Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC., Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom., Eilbeck K; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT., Firth HV; Dept of Medical Genetics, Cambridge University Hospitals, Cambridge, United Kingdom; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Foreman J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom., Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Hay E; Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London, United Kingdom., Leigh S; Genomics England, Queen Mary University of London, Dawson Hall, London, United Kingdom., Martin CL; Geisinger Health System, Danville, PA., McDonagh EM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom; Open Targets, Open Targets, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom., Perrett D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom., Ramos EM; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT., Rath A; INSERM, US14-Orphanet, Paris, France., Sant DW; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT., Stark Z; Australian Genomics, Melbourne 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia; University of Melbourne, Melbourne 3052, Australia., Whiffin N; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Big Data Institute and Wellcome Centre for Human Genetics, University of Oxford, United Kingdom., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA., Ware JS; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Feb; Vol. 26 (2), pp. 101029. Date of Electronic Publication: 2023 Nov 17.

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.

Autor: Roberts AM; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London. WC1N 3JH, UK., DiStefano MT; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Riggs ER; Geisinger Autism & Developmental Medicine Institute, Danville, PA, USA., Josephs KS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh, Saudi Arabia., Amberger J; Online Mendelian Inheritance in Man (OMIM), Johns Hopkins University School of Medicine, USA., Amin M; INSERM, US14-Orphanet, Paris, France., Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill NC, 27599., Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom., Eilbeck K; Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah., Firth HV; Dept of Medical Genetics, Cambridge University Hospitals, Cambridge CB2 0QQ, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK., Foreman J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom., Hamosh A; Online Mendelian Inheritance in Man (OMIM), Johns Hopkins University School of Medicine, USA., Hay E; Dept of Medical Genetics, Great Ormond Street Hospital, Great Ormond Street, London. WC1N 3JH, UK., Leigh S; Genomics England, Queen Mary University of London, Dawson Hall, London, EC1M 6BQ, UK., Martin CL; Clinical Genome Resource (ClinGen), USA., McDonagh EM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.; Open Targets, Cambridge, UK., Perrett D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom., Ramos EM; National Human Genome Research Institute, National Institutes of Health, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington CT 06032, USA., Rath A; INSERM, US14-Orphanet, Paris, France., van Sant D; Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah., Stark Z; Australian Genomics, Melbourne 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne 3052, Australia.; University of Melbourne, Melbourne 3052, Australia., Whiffin N; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Big Data Institute and Wellcome Centre for Human Genetics, University of Oxford, UK., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ware JS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, United Kingdom.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Apr 03. Date of Electronic Publication: 2023 Apr 03.