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Article

Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing

7 Sept 2019

Abstract excerpt

Copy number variants (CNVs) are an important type of human genome variation, which play a significant role in evolution contribute to population diversity and human genetic diseases. In recent years, next generation sequencing has become a valuable tool for clinical diagnostics and to provide sensitive and accurate approaches for detecting CNVs. In our previous work, we described a non-invasive prenatal test...

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PMID: 31500242
DOI: 10.3390/ijms20184403

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