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Article

Towards accurate and reliable resolution of structural variants for clinical diagnosis.

Genome biology - 3 Mar 2022

Liu Zhichao, Roberts Ruth, Mercer Timothy R, Xu Joshua, Sedlazeck Fritz J, Tong Weida

Abstract excerpt

Structural variants (SVs) are a major source of human genetic diversity and have been associated with different diseases and phenotypes. The detection of SVs is difficult, and a diverse range of detection methods and data analysis protocols has been developed. This difficulty and diversity make the detection of SVs for clinical applications challenging and requires a framework to ensure accuracy and...

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PMID: 35241127
DOI: 10.1186/s13059-022-02636-8
PMCID: PMC8892125

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