MultiScale BAM Reference Builder 4.0

MultiScale BAM Reference Builder, developed by BioDiscovery, Inc., is a bioinformatics tool for creating high-quality reference profiles from next-generation sequencing alignment files (BAM). It aggregates read-depth signals across the genome at multiple resolutions, producing robust baselines that support coverage-driven analyses such as copy number assessment, sample quality control, and cohort normalization. The multi-scale approach preserves fine detail while capturing broad genomic trends, helping deliver consistent performance across whole-genome, exome, and targeted sequencing data.

Key capabilities:

• Builds reference models from individual controls or multi-sample cohorts, including options for matched-normal baselines.
• Computes coverage metrics at multiple bin sizes to support downstream segmentation, noise reduction, and comparative analyses.
• Applies common normalization strategies to mitigate biases (e.g., GC content and mappability) and reduce batch effects.
• Provides summary statistics and quality indicators to flag outliers and problematic regions.
• Exports reference outputs compatible with standard downstream analysis workflows.

Designed for research and clinical genomics teams, MultiScale BAM Reference Builder streamlines the creation of reliable, reusable BAM-based references for CNV and other coverage-based analyses.

MultiScale BAM Reference Builder is developed by BioDiscovery, Inc.. The most popular version of this product among our users is 4.0.