DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for human next-generation sequencing data.

Area of Science:

• Genomics
• Bioinformatics
• Computational Biology

Background:

• Next-generation sequencing (NGS) is widely adopted in research and clinical genetics.
• Users have varying levels of bioinformatics expertise and computational resources.
• Processing and analyzing NGS data requires versatile, scalable, and user-friendly software.

Purpose of the Study:

• To develop DNAscan2, a flexible, end-to-end pipeline for NGS data analysis.
• To address the need for accessible and efficient NGS data processing tools.

Main Methods:

• DNAscan2 detects multiple variant types: SNVs, indels, transposable elements, STRs, and structural variants.
• The pipeline covers all standard NGS analysis steps: quality control, alignment, variant calling, annotation, and reporting.
• It offers both a graphical user interface (GUI) and a command-line interface (CLI) for adaptability.
• DNAscan2 is scalable via Snakemake workflows and computationally efficient, minimizing resource requirements.

Main Results:

• DNAscan2 provides a comprehensive solution for NGS data analysis.
• The pipeline accommodates users with diverse technical skills.
• It ensures efficient processing and analysis of various variant types.

Conclusions:

• DNAscan2 enhances the accessibility and efficiency of NGS data analysis.
• Its flexibility and scalability make it suitable for a wide range of applications in basic research and clinical genetics.