Article

Linked-Read sequencing resolves complex structural variants

2017-12-08

Abstract excerpt

<h4>Summary</h4> Large genomic structural variants (>50bp) are important contributors to disease, yet they remain one of the most difficult types of variation to accurately ascertain, in part because they tend to cluster in duplicated and repetitive regions, but also because the various signals for these events can be challenging to detect with short reads. Clinically, aCGH and karyotype remain the most commonly...

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Literature Corpus work: 17a4acf3-0035-5fa0-be42-28cf9a27c212
DOI: 10.1101/231662

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