Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 119435 Moscow, Russia.
Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 119435 Moscow, Russia.
Int J Mol Sci. 2022 Feb 15;23(4):2143. doi: 10.3390/ijms23042143.
Copy number variations (CNVs) are the predominant class of structural genomic variations involved in the processes of evolutionary adaptation, genomic disorders, and disease progression. Compared with single-nucleotide variants, there have been challenges associated with the detection of CNVs owing to their diverse sizes. However, the field has seen significant progress in the past 20-30 years. This has been made possible due to the rapid development of molecular diagnostic methods which ensure a more detailed view of the genome structure, further complemented by recent advances in computational methods. Here, we review the major approaches that have been used to routinely detect CNVs, ranging from cytogenetics to the latest sequencing technologies, and then cover their specific features.
拷贝数变异 (CNVs) 是参与进化适应、基因组疾病和疾病进展过程的主要结构基因组变异类别。与单核苷酸变异相比，由于其大小的多样性，CNVs 的检测一直存在挑战。然而，在过去的 20-30 年中，该领域已经取得了重大进展。这得益于分子诊断方法的快速发展，这些方法确保了对基因组结构的更详细观察，最近计算方法的进展进一步补充了这一点。在这里，我们回顾了用于常规检测 CNVs 的主要方法，从细胞遗传学到最新的测序技术，并介绍了它们的具体特点。
