Article

Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall

2023-05-04

Abstract excerpt

<h4>ABSTRACT</h4> Advances in long-read sequencing (LRS) technology continue to make whole-genome sequencing more complete, affordable, and accurate. LRS provides significant advantages over short-read sequencing approaches, including phased de novo genome assembly, access to previously excluded genomic regions, and discovery of more complex structural variants (SVs) associated with disease. Limitations remain w...

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Literature Corpus work: f1c6dde2-9190-5387-afdc-b971c6c1cad5
DOI: 10.1101/2023.05.04.539448

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