Article

unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level

2020-02-10

Abstract excerpt

<h4>Motivation</h4> Next Generation Sequencing (NGS) is increasingly adopted in the clinical practice largely thanks to concurrent advancements in bioinformatic tools for variant detection and annotation. Despite improvements in available approaches, the need to assess sequencing quality down to the base-pair level still poses challenges for diagnostic accuracy. One of the most popular quality parameters of diagn...

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Literature Corpus work: 3aa7a7be-8792-5dd9-921b-d6ea4b960c65
DOI: 10.1101/2020.02.10.939769

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