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

    1 month ago - By Oxford Journals

    AbstractMotivationWith the increasing throughput of sequencing technologies, structural variant detection has become possible across tens of thousands of genomes. Non-reference sequence 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 assembly which requires high-quality sequence data at high coverage. Previous studies have demonstrated how sequence data of multiple genomes can be combined for the reliable detection of NRS variants...
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