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

Krannich, Thomas ; White, W Timothy J ; Niehus, Sebastian ; Holley, Guillaume ; Halldórsson, Bjarni V ; Kehr, Birte ; Alkan, Can


Motivation: 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 with other types of SVs due to the computational complexity of detecting them. When using shortread data, the detection of NRS variants inevitably involves a de ...


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