Article

Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR

2019-09-12

Abstract excerpt

<h4>ABSTRACT</h4> Despite the interest in characterizing all genomic variation, the presence of large repeats at the breakpoints of many structural variants hinders their analysis. This is especially problematic in the case of inversions, since they are balanced changes without gain or loss of DNA. Here we tested novel linkage-based droplet digital PCR (ddPCR) assays on 20 inversions ranging from 3.1 to 742 kb an...

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Literature Corpus work: d3f41475-8610-50e6-9c6d-ebd1f18b4042
DOI: 10.1101/766915

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