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Authors
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Medical Student at Harvard UniversityDr. Heidi Rehm
Medical Student at Harvard UniversityMedical Student at Harvard University
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Professor of Genetics and Medicine at UNC-Chapel HillJames Evans, MD, PhD
Professor of Genetics and Medicine at UNC-Chapel HillProfessor of Genetics and Medicine at UNC-Chapel Hill
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Staff Scientist for ClinVar at NCBIMelissa Landrum
Staff Scientist for ClinVar at NCBIStaff Scientist for ClinVar at NCBI
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Precision Medicine Healthcare ExecutiveDavid Ledbetter, PhD, FACMG
Precision Medicine Healthcare ExecutivePrecision Medicine Healthcare Executive
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Medical Student at University of PittsburghChrista Martin, PhD, FACMG
Medical Student at University of PittsburghMedical Student at University of Pittsburgh
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Chief of the Division of Genomic Medicine at UCSFRobert Nussbaum, MD
Chief of the Division of Genomic Medicine at UCSFChief of the Division of Genomic Medicine at UCSF
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Professor in the Departments of Pediatrics and Molecular and Human Genetics at Baylor College of MedicineSharon Plon, M.D., Ph.D. FACMG
Professor in the Departments of Pediatrics and Molecular and Human Genetics at Baylor College of MedicineProfessor in the Departments of Pediatrics and Molecular and Human Genetics at Baylor College of Medicine
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CEO, American College of Medical Genetics and GenomicsMichael Watson, PhD, FACMG
CEO, American College of Medical Genetics and GenomicsCEO, American College of Medical Genetics and Genomics
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Experts
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Director of Medical Affairs, 23andMeJeffrey Pollard, MD
Director of Medical Affairs, 23andMeDirector of Medical Affairs, 23andMe
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Chief Technology Officer of Claritas GenomicsJohn Thompson, PhD
Chief Technology Officer of Claritas GenomicsChief Technology Officer of Claritas Genomics
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Internist, Geneticist, Executive Committee Member of Johns Hopkins University/NIH Genetic Counseling Training ProgramHoward Levy, MD, PhD
Internist, Geneticist, Executive Committee Member of Johns Hopkins University/NIH Genetic Counseling Training ProgramInternist, Geneticist, Executive Committee Member of Johns Hopkins University/NIH Genetic Counseling Training Program
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PI, Million Veteran Program, Department of Veterans AffairsMichael Gaziano, MD, MPH
PI, Million Veteran Program, Department of Veterans AffairsPI, Million Veteran Program, Department of Veterans Affairs
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Healthcare Consultant at Maine Medical CenterTom Brewster, MD
Healthcare Consultant at Maine Medical CenterHealthcare Consultant at Maine Medical Center
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Medical Genetics ResidentAustin Hamm, MD
Medical Genetics ResidentMedical Genetics Resident
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Professor at University of Alabama at BirminghamNathaniel Robin, MD
Professor at University of Alabama at BirminghamProfessor at University of Alabama at Birmingham
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Medical Geneticist; Asst. Program Director for Medical Genetics residency programsAnna Hurst, MD, MS
Medical Geneticist; Asst. Program Director for Medical Genetics residency programsMedical Geneticist; Asst. Program Director for Medical Genetics residency programs
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Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USAAnnakaisa Niemi, MD, PhD, FAAP, FACMG
Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USAPediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USA
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Division Head, Center for Medical Genetics at NorthShore University HealthSystemPeter Hulick, MD, MMSc
Division Head, Center for Medical Genetics at NorthShore University HealthSystemDivision Head, Center for Medical Genetics at NorthShore University HealthSystem
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Senior Physician, Pediatric Oncology Dana-Farber / Boston Children'sKatherine Janeway, MD, MMSc
Senior Physician, Pediatric Oncology Dana-Farber / Boston Children'sSenior Physician, Pediatric Oncology Dana-Farber / Boston Children's
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Medical Geneticist at the University of UtahNicola Longo, MD PhD
Medical Geneticist at the University of UtahMedical Geneticist at the University of Utah
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Director at Ocular Genomics InstituteEric Pierce, M.D., Ph.D
Director at Ocular Genomics InstituteDirector at Ocular Genomics Institute
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Lead Moderators
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PhD student in human genetics at HMS/BCH/BroadMichael Guo, MD/PhD Candidate
PhD student in human genetics at HMS/BCH/BroadPhD student in human genetics at HMS/BCH/Broad
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Moderators
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Medical Student at University of Pittsburgh School of MedicineJulie Boiko
Medical Student at University of Pittsburgh School of MedicineMedical Student at University of Pittsburgh School of Medicine
About the Discussion
@NEJM Ask the Authors & Experts: ClinGen — The Clinical Genome Resource
Special Report
ClinGen — The Clinical Genome Resource
Background
ClinGen represents a strong public-academic-private partnership that relies on collaboration between NIH and academic and commercial laboratories operating in both the research and clinical realms. ClinGen is also engaging numerous entities, including professional societies, to ensure the resources produced meet the expectations of the community. Its goals are:
- Share genomic and phenotypic data provided by clinicians, researchers, and patients through centralized databases for clinical and research use
- Standardize the clinical annotation and interpretation of genomic variants
- Implement evidence-based expert consensus for curating genes and variants
- Improve understanding of variation in diverse populations to realize interpretation of genetic testing on a global scale
- Develop machine-learning algorithms to improve the throughput of variant interpretation
- Assess the “medical actionability” of genes and variants
- Structure and provide access to genomic knowledge for use in EHR ecosystems
- Disseminate the collective knowledge and resources for unrestricted use in the community
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Authors
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Medical Student at Harvard UniversityDr. Heidi Rehm
Medical Student at Harvard University
Medical Student at Harvard University
-
Professor of Genetics and Medicine at UNC-Chapel HillJames Evans, MD, PhD
Professor of Genetics and Medicine at UNC-Chapel Hill
Professor of Genetics and Medicine at UNC-Chapel Hill
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Staff Scientist for ClinVar at NCBIMelissa Landrum
Staff Scientist for ClinVar at NCBI
Staff Scientist for ClinVar at NCBI
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Precision Medicine Healthcare ExecutiveDavid Ledbetter, PhD, FACMG
Precision Medicine Healthcare Executive
Precision Medicine Healthcare Executive
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Medical Student at University of PittsburghChrista Martin, PhD, FACMG
Medical Student at University of Pittsburgh
Medical Student at University of Pittsburgh
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Chief of the Division of Genomic Medicine at UCSFRobert Nussbaum, MD
Chief of the Division of Genomic Medicine at UCSF
Chief of the Division of Genomic Medicine at UCSF
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Professor in the Departments of Pediatrics and Molecular and Human Genetics at Baylor College of MedicineSharon Plon, M.D., Ph.D. FACMG
Professor in the Departments of Pediatrics and Molecular and Human Genetics at Baylor College of Medicine
Professor in the Departments of Pediatrics and Molecular and Human Genetics at Baylor College of Medicine
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CEO, American College of Medical Genetics and GenomicsMichael Watson, PhD, FACMG
CEO, American College of Medical Genetics and Genomics
CEO, American College of Medical Genetics and Genomics
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Experts
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Director of Medical Affairs, 23andMeJeffrey Pollard, MD
Director of Medical Affairs, 23andMe
Director of Medical Affairs, 23andMe
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Chief Technology Officer of Claritas GenomicsJohn Thompson, PhD
Chief Technology Officer of Claritas Genomics
Chief Technology Officer of Claritas Genomics
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Internist, Geneticist, Executive Committee Member of Johns Hopkins University/NIH Genetic Counseling Training ProgramHoward Levy, MD, PhD
Internist, Geneticist, Executive Committee Member of Johns Hopkins University/NIH Genetic Counseling Training Program
Internist, Geneticist, Executive Committee Member of Johns Hopkins University/NIH Genetic Counseling Training Program
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PI, Million Veteran Program, Department of Veterans AffairsMichael Gaziano, MD, MPH
PI, Million Veteran Program, Department of Veterans Affairs
PI, Million Veteran Program, Department of Veterans Affairs
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Healthcare Consultant at Maine Medical CenterTom Brewster, MD
Healthcare Consultant at Maine Medical Center
Healthcare Consultant at Maine Medical Center
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Medical Genetics ResidentAustin Hamm, MD
Medical Genetics Resident
Medical Genetics Resident
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Professor at University of Alabama at BirminghamNathaniel Robin, MD
Professor at University of Alabama at Birmingham
Professor at University of Alabama at Birmingham
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Medical Geneticist; Asst. Program Director for Medical Genetics residency programsAnna Hurst, MD, MS
Medical Geneticist; Asst. Program Director for Medical Genetics residency programs
Medical Geneticist; Asst. Program Director for Medical Genetics residency programs
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Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USAAnnakaisa Niemi, MD, PhD, FAAP, FACMG
Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USA
Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USA
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Division Head, Center for Medical Genetics at NorthShore University HealthSystemPeter Hulick, MD, MMSc
Division Head, Center for Medical Genetics at NorthShore University HealthSystem
Division Head, Center for Medical Genetics at NorthShore University HealthSystem
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Senior Physician, Pediatric Oncology Dana-Farber / Boston Children'sKatherine Janeway, MD, MMSc
Senior Physician, Pediatric Oncology Dana-Farber / Boston Children's
Senior Physician, Pediatric Oncology Dana-Farber / Boston Children's
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Medical Geneticist at the University of UtahNicola Longo, MD PhD
Medical Geneticist at the University of Utah
Medical Geneticist at the University of Utah
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Director at Ocular Genomics InstituteEric Pierce, M.D., Ph.D
Director at Ocular Genomics Institute
Director at Ocular Genomics Institute
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Lead Moderators
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PhD student in human genetics at HMS/BCH/BroadMichael Guo, MD/PhD Candidate
PhD student in human genetics at HMS/BCH/Broad
PhD student in human genetics at HMS/BCH/Broad
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Moderators
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Medical Student at University of Pittsburgh School of MedicineJulie Boiko
Medical Student at University of Pittsburgh School of Medicine
Medical Student at University of Pittsburgh School of Medicine
