Article

<i>De novo</i> diploid genome assembly for genome-wide structural variant detection

2019-02-16

Abstract excerpt

Structural variants (SVs) in a personal genome are important but, for all practical purposes, impossible to detect comprehensively by standard short-fragment sequencing. De novo assembly, traditionally used to generate reference genomes, offers an alternative means for variant detection and phasing but has not been applied broadly to human genomes because of fundamental limitations of short-fragment approaches an...

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Literature Corpus work: e95b2839-92b6-52f0-9f0c-ebf540e7300f
DOI: 10.1101/552430

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