Atlas2

Atlas2 identifies genetic variants in Whole Exome Capture Sequencing (WECS) data by distinguishing true single nucleotide polymorphisms (SNPs) and insertions or deletions (indels) from sequencing and mapping errors to support personal genome and clinical sequencing analyses.

Key Features:

• Variant analysis: Distinguishes true single nucleotide polymorphisms (SNPs) and insertions or deletions (indels) from sequencing and mapping errors in WECS data.
• WECS specialization: Optimized for Whole Exome Capture Sequencing (WECS) datasets to support exome-scale variant detection.
• Cloud computing integration: Deploys via Software-as-a-Service (SaaS) models with integration into the Genboree Workbench and Amazon Web Services.
• Cost estimation: Provides detailed cost projections for storage, compute, and input/output operations for large-scale analyses.

Scientific Applications:

• Personal genome analysis: Enables accurate variant identification in individual exome sequencing datasets for research and interpretation.
• Clinical sequencing and diagnostics: Supports variant detection for clinical sequencing workflows and personalized medicine applications where diagnostic accuracy is required.

Methodology:

Distinguishes true SNPs and indels from sequencing and mapping errors in Whole Exome Capture Sequencing (WECS) data; pipeline optimized for performance and efficiency in cloud environments using Software-as-a-Service (SaaS) models and integration with the Genboree Workbench and Amazon Web Services; provides cost projections for storage, compute, and input/output operations.