Article

Population-scale detection of non-reference sequence variants using colored de Bruijn Graphs

2021-03-23

Abstract excerpt

<h4>Motivation</h4> With the increasing throughput of sequencing technologies, structural variant (SV) detection has become possible across tens of thousands of genomes. Non-reference sequence (NRS) variants have drawn less attention compared to other types of SVs due to the computational complexity of detecting them. When using short-read data, the detection of NRS variants inevitably involves a de novo assembl...

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Literature Corpus work: e4f8b96c-3b32-5922-8870-62c87e96344f
DOI: 10.1101/2021.03.23.436560

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