BAM-matcher

BAM-matcher determines whether two BAM files originate from the same biological source by comparing genotype information at common SNP positions.


Key Features:

  • Genotype-Based Matching: Uses genotype information extracted from BAM files to match samples without requiring independently generated high-density SNP data.
  • SNP-Position Comparison: Compares genotypes at common single-nucleotide polymorphism (SNP) positions between two BAM files to assess sample identity.
  • High-Throughput Compatibility: Performs rapid comparisons suitable for early stages of high-throughput genome sequencing data processing pipelines.
  • Sample Mislabeling Detection: Detects sample swaps or mislabeling events within sequencing workflows by genotype concordance analysis.

Scientific Applications:

  • Sample Identity Verification: Verifies whether two sequencing datasets derive from the same biological source to detect swaps or mislabeling.
  • Matched Tumor–Normal Analysis: Confirms identity of matched tumor and normal samples to support accurate somatic variant calling.

Methodology:

Compares genotypes at common SNP positions extracted from two BAM files to assess whether they originate from the same biological source.

Topics

Details

License:
CC-BY-4.0
Maturity:
Mature
Cost:
Free of charge
Tool Type:
command-line tool
Operating Systems:
Linux, Mac
Programming Languages:
Python
Added:
8/4/2019
Last Updated:
11/24/2024

Operations

Publications

Wang PP, Parker WT, Branford S, Schreiber AW. BAM-matcher: a tool for rapid NGS sample matching. Bioinformatics. 2016;32(17):2699-2701. doi:10.1093/bioinformatics/btw239. PMID:27153667.

Documentation

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