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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Marie Macnee
  • Eduardo Pérez-Palma
  • Tobias Brünger
  • Chiara Klöckner
  • Konrad Platzer
  • Arthur Stefanski
  • Ludovica Montanucci
  • Allan Bayat
  • Maximilian Radtke
  • Ryan L. Collins
  • Michael Talkowski
  • Daniel Blankenberg
  • Rikke S. Møller
  • Johannes R. Lemke
  • Michael Nothnagel
  • Patrick May
  • Dennis Lal

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.

OriginalsprogEngelsk
Artikelnummerbtad290
TidsskriftBioinformatics
Vol/bind39
Udgave nummer5
ISSN1367-4803
DOI
StatusUdgivet - 1 maj 2023
Eksternt udgivetJa

Bibliografisk note

Funding Information:
This work was supported by the German Federal Ministry for Education and Research [BMBF, Treat-ION, 01GM1907D to D.L., P.M.], and T.B. and P.M. was supported by Fonds Nationale de la Recherche in Luxembourg grants [FOR-2715, INTER/DFG/17/11583046; ProtectMove, INTER/DFG/19/14429377; NCER-PD, FNR11264123]. E.P.-P. was supported by the Chilean Agencia Nacional de Investigación y Desarrollo (ANID) grants [PAI77200124 and FONDECYT 1221464], and the FamilieSCN2A foundation 2020 Action Potential Grant.

Publisher Copyright:
© The Author(s) 2023. Published by Oxford University Press.

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