A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: Navify^® Mutation Profiler.

ABSTRACT:

Introduction

Personalized medicine has revolutionized the clinical management of patients with solid tumors. However, the large volumes of molecular data derived from next-generation sequencing (NGS) and the lack of harmonized bioinformatics pipelines drastically impact the clinical management of patients with solid tumors. A possible solution to streamline the molecular interpretation and reporting of NGS data would be to adopt automated data analysis software. In this study, we tested the clinical efficiency of the Navify Mutation Profiler (nMP) software in improving the interpretation of NGS data analysis in diagnostic routine samples from patients with solid tumors.

Methods

This study included one coordinating institution (Federico II University of Naples) and five other

SUBMITTER: Pepe F 

PROVIDER: S-EPMC11880482 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature