[PMID:27892959] [Nature Methods]

novoBreak: local assembly for breakpoint detection in cancer genomes

“a genome-wide local assembly algorithm that discovers somatic and germline structural variation breakpoints in whole-genome sequencing data.” “it more effectively utilized reads spanning breakpoints. novoBreak also demonstrated great sensitivity in identifying short insertions and deletions.” “For a 40× 2 × 101 bp whole-genome tumor and normal pairs, novoBreak needs a main memory less than 40 GB and a running time less than ~6 h with 10 CPU cores.”


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