一个遗传平台,用于研究导致微缺失和微重复(MMS)综合征的染色体结构异常的产生

Christos V. Bellos, Charilaos Kostoulas, K. Stefanou, P. Sakaloglou, Paris Ladias, S. Markoula, Alexandros Fyraridis, I. Georgiou, G. Stergios
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引用次数: 0

摘要

2003年人类基因组测序的完成重新定义了在遗传水平上理解许多疾病的分子基础。人类基因组测序导致了基因医学以及基因与疾病的关联的根本变化。在过去的4年中,遗传知识在临床实践中的应用是由于下一代测序系统(NGS)的发展。NGS技术,也被称为大规模平行测序,是一种创新的高通量DNA测序方法。NGS技术是一种新的基因“武器”,可以在短短几天内对所有基因(全外显子组测序)和整个人类基因组(全基因组测序)进行测序,产生大量的信息。NGS正在基因诊断和研究领域迅速取得进展。它可以给出小基因损伤和染色体结构异常的综合结果。基于该技术,GeneScreening项目的目标是创建一个具有广泛临床应用价值的拷贝数变异(CNVs)致病变异检测的遗传平台,以预防和诊断发育障碍和精神疾病。子目标有:(i)确定导致缺陷和微重复的重组点,(ii)创建致病性重组的生物标志物,(iii)创建涉及致病性重组的序列数据库,以及(iv)在NGS数据中创建标准重组点检测软件。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A genetic platform for studying the creation of structural abnormalities of chromosomes that cause micro-deletion and micro-duplication (MMS) syndromes
The completion of the human genome sequencing in 2003 redefined the molecular basis for understanding many diseases and illnesses at the genetic level. Sequencing of the human genome has led to a radical change in genetic medicine as well as the association of genes with diseases. The application of genetic knowledge in clinical practice in the last 4 years is due to the development of next generation sequencing systems (NGS). NGS technology, also known as massive parallel sequencing, is an innovative high throughput DNA sequencing methodology. NGS technology is the new genetic “weapon” enabling the sequencing of all genes (whole exome sequencing) and the entire human genome (whole genome sequencing) in just a few days, producing huge amounts of information. NGS is rapidly gaining ground in the field of genetic diagnosis and research. It can give combined results for both small gene damage and structural abnormalities of chromosomes. Based on this technology, the goal of GeneScreening project is to create a genetic platform for the detection of pathogenic variants in the copy number variations (CNVs) of wide clinical utility and application in order to prevent and diagnose developmental disorders and mental illnesses. Sub-objectives are: (i) the mapping of repetitive sequences in which the recombination points that cause deficits and microplications are identified, (ii) the creation of biomarkers of pathogenic recombinations, (iii) creating a database of sequences involved in pathogenic recombinations and (iv) the creation of standard recombination point detection software in NGS data.
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期刊介绍: Computer Engineering and Design is supervised by China Aerospace Science and Industry Corporation and sponsored by the 706th Institute of the Second Academy of China Aerospace Science and Industry Corporation. It was founded in 1980. The purpose of the journal is to disseminate new technologies and promote academic exchanges. Since its inception, it has adhered to the principle of combining depth and breadth, theory and application, and focused on reporting cutting-edge and hot computer technologies. The journal accepts academic papers with innovative and independent academic insights, including papers on fund projects, award-winning research papers, outstanding papers at academic conferences, doctoral and master's theses, etc.
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