Article

Multi-platform discovery of haplotype-resolved structural variation in human genomes

2017-09-23

Abstract excerpt

<h4>ABSTRACT</h4> The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, and strand-specific sequencing technologies, optical mapping, and variant discovery algorithms to comprehensively analyze three human parent–child trios to define the full spectrum of human...

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Literature Corpus work: bb82b708-69c3-5eae-9570-7fa78b37565f
DOI: 10.1101/193144

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