PanelCAT: an Open-Source Comparative Analysis Tool for Next-Generation Sequencing Panel Target Regions

Multi-gene next-generation sequencing (NGS) panels have become a routine diagnostic method in the contemporary practice of personalized medicine. To avoid inadequate test choice or interpretation, a detailed understanding of the precise panel target regions is required. However, the necessary bioinformatic expertise is not always available, and publicly accessible and easily interpretable analyses of target regions are scarce. To address this critical knowledge gap, we present the Panel Comparative Analysis Tool (PanelCAT) an open-source application to analyze, visualize and compare NGS panel DNA target regions.

Source: Journal of Molecular Diagnostics - March 18, 2024 Category: Pathology Authors: Andr é Oszwald, Lucia Zisser, Eva Compérat, Leonhard Müllauer Tags: Regular Article Source Type: research