CNV-ClinViewer - Resultat

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

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Standard

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

Harvard

Macnee, M, Pérez-Palma, E, Brünger, T, Klöckner, C, Platzer, K, Stefanski, A, Montanucci, L, Bayat, A, Radtke, M, Collins, RL, Talkowski, M, Blankenberg, D, Møller, RS, Lemke, JR, Nothnagel, M, May, P & Lal, D 2023, 'CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online', Bioinformatics, bind 39, nr. 5, btad290. https://doi.org/10.1093/bioinformatics/btad290

APA

Macnee, M., Pérez-Palma, E., Brünger, T., Klöckner, C., Platzer, K., Stefanski, A., Montanucci, L., Bayat, A., Radtke, M., Collins, R. L., Talkowski, M., Blankenberg, D., Møller, R. S., Lemke, J. R., Nothnagel, M., May, P., & Lal, D. (2023). CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics, 39(5), [btad290]. https://doi.org/10.1093/bioinformatics/btad290

Vancouver

Macnee M, Pérez-Palma E, Brünger T, Klöckner C, Platzer K, Stefanski A o.a. CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics. 2023 maj 1;39(5). btad290. https://doi.org/10.1093/bioinformatics/btad290

Author

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. / CNV-ClinViewer : enhancing the clinical interpretation of large copy-number variants online. I: Bioinformatics. 2023 ; Bind 39, Nr. 5.

Bibtex

@article{ed844ba9b9924e159415e40198cf4f9f,

title = "CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online",

abstract = "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{\textquoteright} patient care and for basic scientists{\textquoteright} translational genomic research.",

author = "Marie Macnee and Eduardo P{\'e}rez-Palma and Tobias Br{\"u}nger and Chiara Kl{\"o}ckner and Konrad Platzer and Arthur Stefanski and Ludovica Montanucci and Allan Bayat and Maximilian Radtke and Collins, {Ryan L.} and Michael Talkowski and Daniel Blankenberg and M{\o}ller, {Rikke S.} and Lemke, {Johannes R.} and Michael Nothnagel and Patrick May and Dennis Lal",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2023. Published by Oxford University Press.",

year = "2023",

month = may,

day = "1",

doi = "10.1093/bioinformatics/btad290",

language = "English",

volume = "39",

journal = "Bioinformatics (Online)",

issn = "1367-4811",

publisher = "Oxford University Press",

number = "5",

}

RIS

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

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