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A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

2019-06-14

Abstract excerpt

In order to properly interpret the results of a diagnostic gene panel sequencing test, gene coverage needs to be taken into consideration. If coverage is too low, an additional re-sequencing test is needed to make sure that a pathogenic variant is not missed. To facilitate the interpretation of coverage data, we designed CovReport, a novel easy-to-use visualization tool. CovReport generates a concise coverage summ...

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Literature Corpus work
899f846a-4a42-5f93-b6f0-feba45ab2b7e
DOI
10.1101/671511
Open publication

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A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reportsDOI 10.1101/671511
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