Article

Gaps and complex structurally variant loci in phased genome assemblies

2022-07-06

Abstract excerpt

<h4>ABSTRACT</h4> There has been tremendous progress in the production of phased genome assemblies by combining long-read data with parental information or linking read data. Nevertheless, a typical phased genome assembly generated by trio-hifiasm still generates more than ~140 gaps. We perform a detailed analysis of gaps, assembly breaks, and misorientations from 77 phased and assembled human genomes (154 unique...

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Literature Corpus work: 36c1679d-69f8-5002-a55a-feeadbb914b2
DOI: 10.1101/2022.07.06.498874

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