Article

Copy number variant detection with low-coverage whole-genome sequencing is a viable alternative to the traditional array-CGH

2020-09-09

Abstract excerpt

Copy number variations (CNVs) are a type of structural variants involving alterations in the number of copies of specific regions of DNA, which can either be deleted or duplicated. CNVs contribute substantially to normal population variability; however, abnormal CNVs cause numerous genetic disorders. Nowadays, several methods for CNV detection are used, from the conventional cytogenetic analysis through microarray...

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Literature Corpus work: b07bcbdd-8397-529c-82ae-425e8eb70207
DOI: 10.1101/2020.09.07.20183665

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