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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-35039090
ABSTRACT

BACKGROUND:

Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comprehensive curation tools necessary for analyzing an individual patient genome and interpreting genetic variants to inform healthcare management have been lacking.

RESULTS:

Here we present the ClinGen Variant Curation Interface (VCI), a global open-source variant classification platform for supporting the application of evidence criteria and classification of variants based on the ACMG/AMP variant classification guidelines. The VCI is among a suite of tools developed by the NIH-funded Clinical Genome Resource (ClinGen) Consortium and supports an FDA-recognized human variant curation process. Essential to this is the ability to enable collaboration and peer review across ClinGen Expert Panels supporting users in comprehensively identifying, annotating, and sharing relevant evidence while making variant pathogenicity assertions. To facilitate evidence-based improvements in human variant classification, the VCI is publicly available to the genomics community. Navigation workflows support users providing guidance to comprehensively apply the ACMG/AMP evidence criteria and document provenance for asserting variant classifications.

CONCLUSIONS:

The VCI offers a central platform for clinical variant classification that fills a gap in the learning healthcare system, facilitates widespread adoption of standards for clinical curation, and is available at https//curation.clinicalgenome.org.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Genoma Humano Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Genome Med Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Genoma Humano Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Genome Med Ano de publicação: 2022 Tipo de documento: Article