CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

Autor:	Macnee M; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany., Pérez-Palma E; Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile., Brünger T; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Stefanski A; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA., Montanucci L; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Member of ERN Epicare, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Collins RL; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Talkowski M; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Blankenberg D; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Member of ERN Epicare, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Nothnagel M; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; University Hospital Cologne, Cologne, Germany., May P; Luxembourg Centre for Systems Biomedicine, University Luxembourg, Esch-sur-Alzette, Luxembourg., Lal D; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Jazyk:	angličtina
Zdroj:	Bioinformatics (Oxford, England) [Bioinformatics] 2023 May 04; Vol. 39 (5).
DOI:	10.1093/bioinformatics/btad290
Abstrakt:	Motivation: Pathogenic copy-number variants (CNVs) can cause a heterogeneous spectrum of rare and severe disorders. However, most CNVs are benign and are part of natural variation in human genomes. CNV pathogenicity classification, genotype-phenotype analyses, and therapeutic target identification are challenging and time-consuming tasks that require the integration and analysis of information from multiple scattered sources by experts. Results: Here, we introduce the CNV-ClinViewer, an open-source web application for clinical evaluation and visual exploration of CNVs. The application enables real-time interactive exploration of large CNV datasets in a user-friendly designed interface and facilitates semi-automated clinical CNV interpretation following the ACMG guidelines by integrating the ClassifCNV tool. In combination with clinical judgment, the application enables clinicians and researchers to formulate novel hypotheses and guide their decision-making process. Subsequently, the CNV-ClinViewer enhances for clinical investigators' patient care and for basic scientists' translational genomic research. Availability and Implementation: The web application is freely available at https://cnv-ClinViewer.broadinstitute.org and the open-source code can be found at https://github.com/LalResearchGroup/CNV-clinviewer. (© The Author(s) 2023. Published by Oxford University Press.)
Databáze:	MEDLINE
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