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

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

Abstract 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...

Full description

Bibliographic Details
Main Authors: Zuzana Holesova, Ondrej Pös, Juraj Gazdarica, Marcel Kucharik, Jaroslav Budis, Michaela Hyblova, Gabriel Minarik, Tomas Szemes
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Genomics
Subjects:
Copy number variation
Whole genome sequencing
Non-invasive prenatal testing
Population study
Large-scale CNV frequency comparison
Online Access:https://doi.org/10.1186/s12864-024-10267-5

Internet

https://doi.org/10.1186/s12864-024-10267-5

Similar Items