Article

SvABA: Genome-wide detection of structural variants and indels by local assembly

2017-02-01

Abstract excerpt

Structural variants (SVs), including small insertion and deletion variants (indels), are challenging to detect through standard alignment-based variant calling methods. Sequence assembly offers a powerful approach to identifying SVs, but is difficult to apply at-scale genome-wide for SV detection due to its computational complexity and the difficulty of extracting SVs from assembly contigs. We describe SvABA, an e...

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Literature Corpus work: f3ef8c4c-716e-593c-9227-e0b75b65a373
DOI: 10.1101/105080

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