BasePlayer

BasePlayer enables discovery of potential causative mutations in coding and noncoding regions of the human genome for applications in cancer and rare disease genomics.

Key Features:

• Coding and noncoding mutation analysis: Enables discovery of potential causative mutations within both coding and noncoding regions of the human genome.
• NGS data processing: Supports analysis of datasets produced by next-generation sequencing (NGS) technologies.
• Quality control and filtering: Implements quality filtering and quality control measures for variant data.
• Case–control comparison: Performs comparative analyses between cases and controls for variant prioritization.
• Genome annotation: Provides detailed genome annotation of variants.
• Visual validation: Enables visual validation of variant calls and results.
• Genome-wide regulatory scans: Conducts genome-wide scans of regulatory regions to identify clusters of mutations.
• High-throughput performance: Can analyze datasets such as 3 million somatic variants from 200 whole-genome-sequenced (WGS) cancers in approximately 10 minutes on a standard desktop computer.

Scientific Applications:

• Cancer genomics: Identification and prioritization of somatic variants and mutation clusters from whole-genome-sequenced (WGS) cancer cohorts.
• Rare disease research: Discovery of potential causative mutations in coding and noncoding regions underlying rare genetic disorders.
• Regulatory genomics: Genome-wide analysis of regulatory regions to detect mutation clusters that may affect gene regulation.

Methodology:

Processes next-generation sequencing (NGS) datasets using quality control and filtering, comparative analyses between cases and controls, detailed genome annotation, visual validation of variant calls, and genome-wide scans of regulatory regions to identify mutation clusters.