Article

eXNVerify: coverage analysis for long and short-read sequencing data in clinical context

2021-12-17

Abstract excerpt

Accurate identification of genetic variants to a large extent is based on type of experimental technology, quality of the material and coverage of obtained sequencing data. Our motivation was to create a tool that will evaluate genome coverage and accelerate the introduction of long-read sequencing to medical diagnostics and clinical practice. Here we present eXNVerify: a tool for inspection of clinical data in th...

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Literature Corpus work: 67a087dc-183f-5c14-866f-b1354c80c64d
DOI: 10.1101/2021.12.16.473078

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