Benchmarking PacBio whole genome sequencing variant pipeline analysis with AWS HealthOmics workflows

This article discusses benchmarking the PacBio whole genome sequencing variant pipeline analysis using AWS HealthOmics workflows, highlighting key insights into genomic data processing and optimization.

• PacBio HiFi sequencing enables long, accurate reads for comprehensive genome analysis
• AWS HealthOmics provides a scalable, secure platform for processing genomic data
• The WGS variant pipeline includes nine key stages from read alignment to variant annotation
• Benchmarking revealed GPU acceleration (NVIDIA Tesla A10G) provides:
  • 21.3% cost reduction
  • 8.5% faster pipeline completion
• Optimal configuration achieved $19.15 cost using Tesla A10G with static storage

The study demonstrates AWS HealthOmics' capability to efficiently process complex genomic data while maintaining robust security and compliance standards.