MuCor

MuCor aggregates and summarizes genetic variant calls across multiple samples to enable cohort-level annotation, frequency calculation, and cross-platform comparison.

Key Features:

• Multi-Format Input Handling: Processes diverse input formats, including multiple files per sample, to integrate outputs from different sequencing platforms and pipelines.
• Database Integration and Frequency Calculations: Performs database lookups to annotate variants and calculates variant frequencies within cohorts.
• Versatile Reporting Capabilities: Produces multiple types of summary reports that provide varying levels of detail and statistical analysis.
• Cross-Platform Comparison: Compares variant calls from the same sample across platforms, parameters, or pipelines to identify discrepancies and confirm consistency.
• Companion Utility - DepthGauge: Includes DepthGauge to measure sequencing coverage at regions of interest and assess support for variant calls.

Scientific Applications:

• Large-scale genomic studies: Aggregates and summarizes variant data across many samples to support cohort-level analyses.
• Population genetics: Provides cohort frequency calculations and annotations for population-level variant analysis.
• Disease association studies: Generates annotated variant summaries suitable for case-control and association analyses.
• Variant-calling benchmarking and validation: Enables comparison of calls across platforms, parameters, or pipelines for cross-validation and discrepancy detection.

Methodology:

Aggregates variant data from multiple sources and formats; annotates variants via database lookups and calculates cohort frequencies; generates summary reports at multiple levels of granularity; compares variant calls across datasets for cross-validation.