JWES

JWES processes whole genome and exome sequencing (WGS/WES) data to enable variant discovery, annotation, prediction, genotyping, and interpretation of genetic variation.

Key Features:

• Modular architecture: Composed of distinct data processing, storage, and visualization modules for end-to-end WGS/WES data handling.
• Data processing for variant calling: Executes tasks essential for variant calling, including sequence assembly and detection of single nucleotide polymorphisms (SNPs) and structural variants (SVs).
• Storage management: Manages high-volume gene-variant data with organized storage to preserve dataset integrity and accessibility.
• Visualization: Employs Circos graphs to represent variant data and complex genetic relationships.
• FAIR compliance: Adheres to the FAIR (findable, accessible, interoperable, and reusable) principles for genomic data.
• Variant analysis capabilities: Supports gene-variant discovery, annotation, prediction, and genotyping within WGS and WES contexts.
• Reproducibility and dataset support: Supports reproducible analyses and case studies using both open access and proprietary datasets.
• Cross-platform validation: Has been tested and validated on Microsoft Windows, macOS Big Sur, and UNIX.

Scientific Applications:

• Variant discovery: Detection of SNPs and SVs in WGS/WES datasets for rare and common variant identification.
• Genotyping and prediction: Genotyping and variant effect prediction within genomic studies.
• Annotation and interpretation: Annotation and interpretation of gene-variant relationships to support genetic research.
• Complex disorder analysis: Analysis of complex disorders through reproducible case studies using diverse datasets.
• Large-scale data management: Storage and organization of high-volume genomic variant data for downstream analyses.

Methodology:

Computational steps explicitly include sequence assembly and detection of SNPs and SVs for variant calling, organized storage of gene-variant data, and visualization of variants using Circos graphs.