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Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations

15 Apr 2024

Abstract excerpt

Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments, contributing to genetic diversity and playing a crucial role in the evolution and development of various diseases and disorders, as they can lead to the dosage imbalance of one or more genes. Massively parallel sequencing (MPS) has revolutionized the field of genetic analysis...

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PMID: 38622538
DOI: 10.1186/s12864-024-10267-5

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