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

Area of Science:

• Oncology
• Bioinformatics
• Genomics

Background:

• Personalized medicine relies on molecular data from next-generation sequencing (NGS) for solid tumors.
• Challenges exist in managing large NGS datasets and harmonizing bioinformatics pipelines.
• Automated analysis software offers a potential solution for streamlined molecular interpretation.

Purpose of the Study:

• To evaluate the clinical efficiency of the Navify Mutation Profiler (nMP) software.
• To assess nMP's ability to improve the interpretation of NGS data in routine diagnostics for solid tumors.

Main Methods:

• Multi-institutional study involving one coordinating and five diagnostic institutions.
• Variant call format (VCF) files from reference and 8 diagnostic samples (colorectal carcinoma, non-small cell lung cancer, melanoma, GIST) were analyzed.
• Navify Mutation Profiler (nMP) system performed automated analysis and interpretation, compared against standardized internal workflows.

Main Results:

• All VCF files were successfully processed by the nMP system.
• An overall concordance rate of 89.6% was achieved between nMP and standard workflows.
• High concordance was observed for DNA (91.7%) and RNA (91.7%) molecular profiles, with nMP correctly identifying wild-type variants in 85.7% of cases.

Conclusions:

• The Navify Mutation Profiler (nMP) system is a viable tool for interpreting NGS data.
• The software is easily manageable and clinically useful for diagnostic routine samples.
• nMP aids in the interpretation of molecular alterations in solid tumors.