Article

Discovery and characterization of <i>Alu</i> repeat sequences via precise local read assembly

2015-02-06

Abstract excerpt

<h4>ABSTRACT</h4> Alu insertions have contributed to >11% of the human genome and ~30–35 Alu subfamilies remain actively mobile, yet the characterization of polymorphic Alu insertions from short-read data remains a challenge. We build on existing computational methods to combine Alu detection and de novo assembly of WGS data as a means to reconstruct the full sequence of insertion events from Illumina paired...

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Literature Corpus work: bf7481c6-5896-5267-883e-abb0a1ef4f95
DOI: 10.1101/014977

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