hDNApipe

hDNApipe analyzes and interprets human genomic sequencing data through an end-to-end pipeline that obtains variants and associated information, with optional variant visualization and downstream analysis.

Key Features:

• Dual-mode operation: Supports both command-line interface and graphical user interface modes with multiple parameter options for customized analysis.
• Variant detection and annotation: Directly obtains variants and associated information from human genomic sequencing data.
• Variant visualization: Optionally enables visualization of variants and downstream analysis.
• Benchmarked performance: Evaluated from alignment to variant calling, demonstrating performance in time consumption, precision, and sensitivity.

Scientific Applications:

• Human genome analysis: End-to-end analysis and interpretation of human genomic sequencing data.
• Variant calling and interpretation: Detection and annotation of genetic variants with associated information for downstream analysis.

Methodology:

The pipeline is developed using bash scripts and the Python standard graphical user interface library Tkinter.