Determination of the clinical significance of an unclassified variant.
Determination of the clinical significance of an unclassified variant.
复制标题
确定未分类变异的临床意义。
DOI：
10.1007/978-1-61779-504-6_23
复制
发表时间：
2012
影响因子：
--
通讯作者：
Jing Wang
中科院分区：
文献类型：
--
作者：
V. Zhang;Jing Wang
2003年人类基因组计划（HGP）的完成，以及基因组研究新技术的发展，为人类提供了最精确的遗传学蓝图。研究人员开始解剖和了解人类的基因图谱。因此，分析新的或未分类的遗传变异在转化医学中变得越来越重要。现代医学的医学专业之一是临床遗传学，由美国医学遗传学委员会（ABMG）监督。2008年，ABMG出版了使用ACMG标准和指南解释新变体的指南（理查兹等人Genet Med 10：294-300，2008）。在本章中，我们提供了评估不同的数据库，计算工具和结构分析方法，我们目前利用，以协助临床解释的更新程序。
After completion of Human Genome Project (HGP) in 2003, as well as the new technology development in genomic research, the most accurate genetics blueprint of human is available. Researchers started to dissect and understand the genetic map of the human species. As a consequence, analyses of novel or unclassified genetic variations become increasingly important in translational medicine. One of the medical specialties in modern medicine is clinical genetics, which is overseen by the American Board of Medical Genetics (ABMG). In 2008, ABMG published a guideline for interpretation of new variants using ACMG Standards and Guidelines (Richards et al. Genet Med 10:294-300, 2008). In this chapter, we provide updated procedures of evaluating different databases, computational tools, and structural analysis methods that we currently utilize to assist in clinical interpretation.