novoBreak: local assembly for breakpoint detection in cancer genomes.
basic_science · Level V
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- Record sourced from PubMed, PMID 27892959.
- Also identified by DOI 10.1038/nmeth.4084 and PMC identifier 5199621.
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Abstract
We present novoBreak, a genome-wide local assembly algorithm that discovers somatic and germline structural variation breakpoints in whole-genome sequencing data. novoBreak consistently outperformed existing algorithms on real cancer genome data and on synthetic tumors in the ICGC-TCGA DREAM 8.5 Somatic Mutation Calling Challenge primarily because it more effectively utilized reads spanning breakpoints. novoBreak also demonstrated great sensitivity in identifying short insertions and deletions.
Medical subject headings
- High-Throughput Nucleotide Sequencing
- Mutation
- Neoplasms
- Sequence Analysis, DNA