AgileExomeFilter

AgileExomeFilter filters and prioritizes genetic variants from exome sequencing to identify potentially clinically relevant and deleterious mutations for research and diagnostic interpretation.

Key Features:

• Rapid Variant Filtering: Enables rapid processing of large next-generation sequencing (NGS) exome datasets to identify potentially deleterious variants.
• Automatic Variant Calling Support: Operates on variant call outputs produced by automatic variant calling from standard bioinformatics pipelines.
• Integration with Standard Pipelines: Integrates with Unix-based bioinformatics pipelines to accept upstream variant calls for downstream filtering.
• Scalability and Flexibility: Supports analyses ranging from targeted gene panels to whole-exome sequencing across diverse genetic disorder investigations.
• Compatibility with Enrichment Methods: Works with data generated following targeted hybridization enrichment prior to sequencing.

Scientific Applications:

• Cancer Predisposition Testing: Applied to targeted cancer-predisposing genes with reported high concordance to existing diagnostic data in a cohort of 128 patients.
• Diagnosis of Genetically Heterogeneous Disorders: Used in studies of primary ciliary dyskinesia (PCD) with high diagnostic yield and identification of novel mutations such as variants in DNAH8.

Methodology:

Uses variant call outputs from automatic variant calling on Unix-based pipelines, followed by interactive filtering and parameter adjustment to refine and prioritize variant lists.