Article

A long read mapping method for highly repetitive reference sequences

2020-11-02

Abstract excerpt

About 5-10% of the human genome remains inaccessible for functional analysis due to the presence of repetitive sequences such as segmental duplications and tandem repeat arrays. To enable high-quality resequencing of personal genomes, it is crucial to support end-to-end genome variant discovery using repeat-aware read mapping methods. In this study, we highlight the fact that existing long read mappers often yield...

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Literature Corpus work: 48031770-96d1-5480-865a-14a7bc8ce943
DOI: 10.1101/2020.11.01.363887

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