Institute of Food Science and Biotechnology, Faculty of Chemistry, Brno University of Technology, 61200 Brno, Czech Republic.
Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, 61137 Brno, Czech Republic.
Genes (Basel). 2022 Mar 21;13(3):556. doi: 10.3390/genes13030556.
Identification of genomic variability in population plays an important role in the clinical diagnostics of human genetic diseases. Thanks to rapid technological development in the field of massive parallel sequencing technologies, also known as next-generation sequencing (NGS), complex genomic analyses are now easier and cheaper than ever before, which consequently leads to more effective utilization of these techniques in clinical practice. However, interpretation of data from NGS is still challenging due to several issues caused by natural variability of DNA sequences in human populations. Therefore, development and realization of projects focused on description of genetic variability of local population (often called "national or digital genome") with a NGS technique is one of the best approaches to address this problem. The next step of the process is to share such data via publicly available databases. Such databases are important for the interpretation of variants with unknown significance or (likely) pathogenic variants in rare diseases or cancer or generally for identification of pathological variants in a patient's genome. In this paper, we have compiled an overview of published results of local genome sequencing projects from United Kingdom and Europe together with future plans and perspectives for newly announced ones.
在人类遗传疾病的临床诊断中,鉴定人群中的基因组变异起着重要作用。得益于大规模平行测序技术(也称为下一代测序,NGS)领域的快速技术发展,复杂的基因组分析现在比以往任何时候都更容易和更便宜,这使得这些技术在临床实践中的应用更加有效。然而,由于人类群体中 DNA 序列的自然变异引起的几个问题,NGS 数据的解释仍然具有挑战性。因此,开发和实现专注于使用 NGS 技术描述当地人群(通常称为“国家或数字基因组”)遗传变异的项目是解决该问题的最佳方法之一。该过程的下一步是通过公共可用数据库共享此类数据。这些数据库对于解释罕见疾病或癌症中的未知意义或(可能)致病性变异或一般用于鉴定患者基因组中的病理性变异非常重要。在本文中,我们汇总了来自英国和欧洲的本地基因组测序项目的已发表结果,以及新宣布的项目的未来计划和展望。