MBV

MBV detects concordance between BAM and VCF genotype data to identify sample mislabeling, cross-sample contamination, and PCR amplification bias for applications such as expression quantitative trait locus (eQTL) mapping.

Key Features:

• Sample Mislabeling Resolution: Identifies and resolves instances of sample mislabeling between VCF genotypes and BAM alignments to ensure correct sample assignment.
• Detection of Cross-Sample Contamination: Detects cross-sample contamination in sequence data that can compromise downstream analyses.
• PCR Amplification Bias Detection: Detects PCR amplification bias as a technical artifact in sequencing assays that can skew variant and expression measurements.

Scientific Applications:

• eQTL detection: Validates genotype–sequence concordance for expression quantitative trait locus (eQTL) mapping.
• Genetic association studies: Improves data integrity for genetic association studies and other genomic analyses by ensuring matched genotype and sequence data.

Methodology:

Implemented in C++ and provided as an independent component of QTLtools; its algorithmic framework processes large datasets to validate genotype–sequence concordance.