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Updated: Jun 28, 2025

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了解遗传变异性:通过欧洲人口的非侵入性产前检测,探索大规模的副本数变异

Zuzana Holesova1, Ondrej Pös2,3, Juraj Gazdarica2,4,5

  • 1Geneton Ltd, Bratislava, Slovakia. zuzana.holesova@geneton.sk.

BMC genomics
|April 15, 2024
PubMed
概括

这项研究分析了12,000多名孕妇的大型副本数变异 (CNV),使用非侵入性产前检测数据. 这些发现揭示了中欧地区特定种群的CNV频率,有助于基因变异解释.

关键词:
副本数量变化的变化大规模的CNV频率比较.非侵入性的产前检测.人口研究研究人口研究.整个基因组的测序.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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