New Generation Sequencing revolutionized genome sequencing and is getting more and more available. However the comprehension of the generated reports is still a complicated task for non specialists. An important task is making NGS reports easy to interpret.
FIGURE 1 : Read coverage of genome sequencing
As a result, the clinician can manage the diagnostic workup in a more efficient way by requesting additional sequencing tests for the regions with insufficient coverage. A user-friendly interface generates a graphical summary of the coverage that can be directly included in the patient’s report.
CovReport is a new gene sequencing coverage visualization tool that greatly facilitates the interpretation of diagnostic test sequencing reports.
It generates a concise summary of the gene coverage allowing to evaluate the performance of the sequencing test at a glance.
FIGURE 2 : CovReport vizualisation sample
ADVANTAGES VS. STATE OF THE ART
- Reliable scientific solution issued from a public research institution specializing in bioinformatics.
- User friendly : easy to use tool, readable and understandable reports, suitable for clinicians without special genetics-related training.
- In situ approval : the tool has been tested for a year in real hospital conditions and proved its efficiency (including several diagnosis changes).
The visualization tool aims to broaden the scope of NGS users and facilitate coverage reading of NGS reports for clinicians in their everyday practice.
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Axes & sous-axes :
Dispositif médical & diagnostic, Santé & technologies du vivant
Etat Propriété Intellectuelle :
Licence et/ou collaboration R&D (co-financement possible).
Aix-Marseille Université, CNRS