Article

Evaluation of computational genotyping of Structural Variations for clinical diagnoses

2019-02-22

Abstract excerpt

<h4>Background</h4> In recent years, Structural Variation (SV) has been identified as having a pivotal role in causing genetic disease. Nevertheless, the discovery of SVs based on short DNA sequence reads from next-generation DNA sequence methods is still error-prone, suffering from low sensitivity and high false discovery. These shortcomings can be partially overcome with the use of long reads, but the current e...

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Literature Corpus work: 37b6d948-9f9f-5833-b97c-b7a99ed9a135
DOI: 10.1101/558247

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