BreakDancer

BreakDancer detects and characterizes genomic structural variations from next-generation short-insert paired-end sequencing reads to identify insertion-deletions (indels), inversions, and translocations for studies of genetic variation and disease.

Key Features:

• Detection Capabilities: Identifies insertion-deletions (indels), inversions, and translocations from next-generation short-insert paired-end sequencing reads.
• Range of Indel Detection: Detects indels ranging from 10 base pairs to 1 megabase pair.
• Sensitivity and Accuracy: Demonstrates high sensitivity and accuracy in detecting structural variants.

Scientific Applications:

• Genomic Research: Characterizes structural variation to study genetic diversity in human populations and the genomic basis of complex diseases such as cancer.
• Clinical and Disease Studies: Analyzes samples from individuals with specific health conditions, including acute myeloid leukemia, to identify disease-associated genomic alterations.

Methodology:

Analyzes next-generation short-insert paired-end sequencing reads and has been evaluated via simulations and comparative analyses, including benchmarking with samples from the 1,000 Genomes project.