TarSeqQC

TarSeqQC assesses quality control in targeted sequencing (TS) experiments by analyzing read count profiles and coverage metrics to identify undercovered genes and genomic regions that could affect variant calling and interpretation.

Key Features:

• Quality Control Assessment: Evaluates read count profiles and coverage metrics across genes and genomic regions in targeted sequencing experiments.
• Primer Pool and Feature Performance: Identifies low-performance primer pools and poorly covered features within datasets.
• Data Exploration: Facilitates rapid exploration of sequenced regions to assess coverage distribution and completeness.
• Integration and Output: Integrates with current R packages to represent targeted experiments and generates an xlsx file summarizing quality metrics.

Scientific Applications:

• Research and Medical Genetics Screening: Detects undercovered variants in TS data to support accurate variant calling and clinical interpretation.
• Experimental Optimization: Identifies coverage gaps and low-performance primer pools to guide refinement of TS experimental design.

Methodology:

Analyzes read count profiles and coverage metrics, identifies low-performance primer pools and poorly covered features, integrates with current R packages to represent targeted experiments, and outputs an xlsx file of quality metrics.