CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
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CNV-ClinViewer : enhancing the clinical interpretation of large copy-number variants online. / Macnee, Marie; Pérez-Palma, Eduardo; Brünger, Tobias; Klöckner, Chiara; Platzer, Konrad; Stefanski, Arthur; Montanucci, Ludovica; Bayat, Allan; Radtke, Maximilian; Collins, Ryan L.; Talkowski, Michael; Blankenberg, Daniel; Møller, Rikke S.; Lemke, Johannes R.; Nothnagel, Michael; May, Patrick; Lal, Dennis.
I: Bioinformatics, Bind 39, Nr. 5, btad290, 01.05.2023.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - CNV-ClinViewer
T2 - enhancing the clinical interpretation of large copy-number variants online
AU - Macnee, Marie
AU - Pérez-Palma, Eduardo
AU - Brünger, Tobias
AU - Klöckner, Chiara
AU - Platzer, Konrad
AU - Stefanski, Arthur
AU - Montanucci, Ludovica
AU - Bayat, Allan
AU - Radtke, Maximilian
AU - Collins, Ryan L.
AU - Talkowski, Michael
AU - Blankenberg, Daniel
AU - Møller, Rikke S.
AU - Lemke, Johannes R.
AU - Nothnagel, Michael
AU - May, Patrick
AU - Lal, Dennis
N1 - Publisher Copyright: © The Author(s) 2023. Published by Oxford University Press.
PY - 2023/5/1
Y1 - 2023/5/1
N2 - 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.
AB - 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.
U2 - 10.1093/bioinformatics/btad290
DO - 10.1093/bioinformatics/btad290
M3 - Journal article
C2 - 37104749
AN - SCOPUS:85159739214
VL - 39
JO - Bioinformatics (Online)
JF - Bioinformatics (Online)
SN - 1367-4811
IS - 5
M1 - btad290
ER -
ID: 389677179