Article

ConnectedReads: machine-learning optimized long-range genome analysis workflow for next-generation sequencing

2019-09-20

Abstract excerpt

Current human genome sequencing assays in both clinical and research settings primarily utilize short-read sequencing and apply resequencing pipelines to detect genetic variants. However, theses mapping-based data analysis pipelines remains a considerable challenge due to an incomplete reference genome, mapping errors and high sequence divergence. To overcome this challenge, we propose an efficient and effective w...

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Literature Corpus work: 307b9bdc-1559-510d-a9e2-87eeb53261cd
DOI: 10.1101/776807

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