muCNV

muCNV performs joint genotyping of structural variations (SVs) from short-read sequencing data to enable scalable population-level SV genotyping in large whole-genome sequencing (WGS) cohorts.

Key Features:

• Multi-Sample Genotyping: Capable of handling over 100,000 samples simultaneously for large-scale WGS projects.
• Aggregation of Summary Pileups: Aggregates per-sample summary pileups to perform joint genotyping.
• Efficient Parallelization: Employs a multi-step process that enables efficient parallelization across samples and genomic regions.
• Scalable Processing: Designed for scalable and efficient processing of very large datasets.
• Reduced Mendelian Inconsistencies: Demonstrates reductions in Mendelian inconsistencies in pilot results.
• Cloud Computational Efficiency: Shows computational efficiencies when applied to cloud-based projects.

Scientific Applications:

• Population-Scale Genotyping: Joint genotyping of SVs across large cohorts to support population genetics and large WGS studies.
• Cloud-Based Genomic Projects: Application in cloud computing environments for scalable joint SV genotyping at population scale.

Methodology:

Aggregates per-sample summary pileups to perform joint genotyping and uses a multi-step process that enables efficient parallelization for scalable processing of large cohorts.