SRinversion

SRinversion detects short inversions in sequencing data to identify small structural variants relevant to genomic variation and disease research.

Key Features:

• Targeted detection of short inversions: Identifies small inversions, including events smaller than 10 base pairs (bp).
• Handling of poorly mapped and unmapped reads: Analyzes reads with low mapping quality or unmapped status by splitting and re-aligning problematic reads.
• Improved sensitivity and specificity: Benchmarking with simulated data and high-coverage sequencing data from the 1000 Genomes Project shows superior performance for small inversion detection compared with Pindel, BreakDancer, DELLY, Gustaf, and MID.
• Implementation: Implemented in Perl.

Scientific Applications:

• Genomic variant analysis: Reveals previously undetected small inversions to improve characterization of genomic variation.
• Disease research: Detects inversion events that can contribute to genetic disorders and aid studies of genotype–phenotype relationships.
• Evolutionary and population genetics: Enables analysis of inversion polymorphisms relevant to evolutionary processes and population structure.

Methodology:

SRinversion identifies poorly mapped or unmapped reads, splits those reads, and re-aligns the fragments to improve mapping quality and detect short inversions.