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Local sequence assembly reveals a high-resolution profile of somatic structural variations in 97 cancer genomes

17 Aug 2015

Abstract excerpt

Genomic structural variations (SVs) are pervasive in many types of cancers. Characterizing their underlying mechanisms and potential molecular consequences is crucial for understanding the basic biology of tumorigenesis. Here, we engineered a local assembly-based algorithm (laSV) that detects SVs with high accuracy from paired-end high-throughput genomic sequencing data and pinpoints their breakpoints at single...

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PMID: 26283183
DOI: 10.1093/nar/gkv831

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