PDF(Pubmed)
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 dosage imbalance of one or more genes. Massively parallel sequencing (MPS) has revolutionized the field of genetic analysis and contributed significantly to routine clinical diagnosis and screening. It offers a precise method for detecting CNVs with exceptional accuracy. In this context, a non-invasive prenatal test (NIPT) based on the sequencing of cell-free DNA (cfDNA) from pregnant women\'s plasma using a low-coverage whole genome MPS (WGS) approach represents a valuable source for population studies. Here, we analyzed genomic data of 12,732 pregnant women from the Slovak (9,230), Czech (1,583), and Hungarian (1,919) populations. We identified 5,062 CNVs ranging from 200 kbp and described their basic characteristics and differences between the subject populations. Our results suggest that re-analysis of sequencing data from routine WGS assays has the potential to obtain large-scale CNV population frequencies, which are not well known and may provide valuable information to support the classification and interpretation of this type of genetic variation. Furthermore, this could contribute to expanding knowledge about the central European genome without investing in additional laboratory work, as NIPTs are a relatively widely used screening method.
摘要：
大规模拷贝数变异（CNV）是基因组中涉及DNA片段复制或缺失的结构改变，促进遗传多样性，并在各种疾病和病症的演变和发展中发挥关键作用，因为它们可能导致一个或多个基因的剂量失衡。大规模平行测序（MPS）彻底改变了遗传分析领域，并为常规临床诊断和筛查做出了重要贡献。它提供了一个精确的方法来检测CNVs具有卓越的精度。在这种情况下，基于使用低覆盖率全基因组MPS(WGS)方法对孕妇血浆中的无细胞DNA(cfDNA)进行测序的非侵入性产前检测(NIPT)是人群研究的宝贵来源.这里,我们分析了来自斯洛伐克的12,732名孕妇（9,230名）的基因组数据，捷克（1,583），和匈牙利（1,919）人口。我们鉴定了200kbp的5,062个CNV，并描述了它们的基本特征和受试者群体之间的差异。我们的结果表明，对常规WGS测定的测序数据进行重新分析有可能获得大规模的CNV种群频率，这是未知的，可能提供有价值的信息来支持这种类型的遗传变异的分类和解释。此外，这可能有助于扩大有关中欧基因组的知识，而无需投资额外的实验室工作，因为NIPT是一种相对广泛使用的筛选方法。
