RUbioSeq

RUbioSeq performs integrated analysis of resequencing data to detect single-nucleotide variants (SNVs), copy number variations (CNVs), and DNA methylation from bisulfite sequencing.

Key Features:

• Exome Variant Detection: Identifies single-nucleotide variants (SNVs) and copy number variations (CNVs) within exome sequencing data.
• Automated Bisulfite-Seq Analysis: Processes bisulfite sequencing data to profile DNA methylation across genomes.
• Parallelized Pipelines: Implements parallelized computational pipelines to accelerate analysis of large high-throughput sequencing datasets.
• Validation of Results: Produces variant analysis results that have been validated and published.

Scientific Applications:

• Genetic Research: Detection of SNVs and CNVs for studies of genetic variation, mutation discovery, and disease genetics.
• Epigenomics: Bisulfite-seq methylation profiling for studies of gene regulation, cancer epigenetics, and developmental biology.
• Personalized Medicine: Generation of variant and methylation profiles to inform individualized diagnostic and treatment-related research.

Methodology:

Parallelized computational pipelines automate primary and secondary analyses of resequencing data, including variant detection and bisulfite-seq methylation analysis.