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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Preston, Christine G; Wright, Matt W; Madhavrao, Rao; Harrison, Steven M; Goldstein, Jennifer L; Luo, Xi; Wand, Hannah; Wulf, Bryan; Cheung, Gloria; Mandell, Mark E; Tong, Howard; Cheng, Shaung; Iacocca, Michael A; Pineda, Arturo Lopez; Popejoy, Alice B; Dalton, Karen; Zhen, Jimmy; Dwight, Selina S; Babb, Lawrence; DiStefano, Marina; O'Daniel, Julianne M; Lee, Kristy; Riggs, Erin R; Zastrow, Diane B; Mester, Jessica L; Ritter, Deborah I; Patel, Ronak Y; Subramanian, Sai Lakshmi; Milosavljevic, Aleksander; Berg, Jonathan S; Rehm, Heidi L; Plon, Sharon E; Cherry, J Michael; Bustamante, Carlos D; Costa, Helio A.
Affiliation
  • Preston CG; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA.
  • Wright MW; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA.
  • Madhavrao R; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA.
  • Harrison SM; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Goldstein JL; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA.
  • Luo X; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Wand H; Center for Inherited Cardiovascular Disease, Stanford Health Care, Stanford, CA, 94305, USA.
  • Wulf B; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA.
  • Cheung G; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA.
  • Mandell ME; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA.
  • Tong H; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA.
  • Cheng S; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA.
  • Iacocca MA; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA.
  • Pineda AL; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA.
  • Popejoy AB; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA.
  • Dalton K; Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA.
  • Zhen J; Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA.
  • Dwight SS; Grace Science LLC, Menlo Park, CA, 94025, USA.
  • Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • DiStefano M; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • O'Daniel JM; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA.
  • Lee K; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA.
  • Riggs ER; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, 17837, USA.
  • Zastrow DB; Sutter Health, Mountain View, CA, 94040, USA.
  • Mester JL; GeneDx Inc., Gaithersburg, MD, 20877, USA.
  • Ritter DI; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Patel RY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Subramanian SL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA.
  • Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Plon SE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
  • Cherry JM; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Bustamante CD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Costa HA; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Genome Med ; 14(1): 6, 2022 01 18.
Article in En | MEDLINE | ID: mdl-35039090
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genome, Human Type of study: Guideline / Prognostic_studies Limits: Humans Language: En Journal: Genome Med Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Genome, Human Type of study: Guideline / Prognostic_studies Limits: Humans Language: En Journal: Genome Med Year: 2022 Document type: Article Affiliation country: Country of publication: