FiNGS

FiNGS filters somatic variant calls to improve precision of next-generation sequencing analyses in cancer samples.

Key Features:

• Configurable Filters and Thresholds: Provides fully configurable filters and thresholds to tailor somatic variant filtering to specific datasets and experimental conditions.
• Advanced Filtering Techniques: Applies advanced filtering techniques to reduce false positives from somatic variant callers.
• Reproducibility and Validation: Validated using publicly available sequencing datasets and demonstrates improved precision over default variant caller outputs.
• VCF Integration: Ingests and emits Variant Call Format (VCF) files for integration into existing NGS pipelines.
• Customizable Filtering Strategies: Supports user-defined filtering strategies that can be exported and shared.

Scientific Applications:

• Cancer Genomics: Supports accurate identification of somatic mutations to aid studies of tumor biology and targeted therapy development.
• Artifact Reduction: Helps distinguish true somatic mutations from sequencing and calling artifacts by improving precision.
• Mutation Burden Assessment: Improves the accuracy of mutation burden estimates by reducing false positive variant calls.
• Downstream Analyses: Enhances downstream analyses such as pathway analysis and personalized medicine approaches by providing higher-precision variant sets.

Methodology:

Applies configurable filters and thresholds and advanced filtering techniques to VCF-format somatic variant calls to reduce false positives and improve precision, with validation on publicly available sequencing datasets.