Article

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

2022-06-13

Abstract excerpt

Accurate identification of genetic variants to a large extent is based on the type of experimental technology, quality of the material and coverage of sequencing data obtained. The latter, coverage quality, highly influences variant calling accuracy and final diagnosis. Our motivation was to create a tool that will evaluate genome coverage and accelerate the introduction of long-read sequencing to medical diagnost...

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Literature Corpus work: eb9c5106-6bf5-589c-866e-ad4461a94d08
DOI: 10.12688/f1000research.121775.1

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