致病性拷贝数变异(pathogenic copy number variation,pCNV)所导致的基因组病,是出生缺陷的一类重要遗传学病因。目前用于检测CNV的技术主要包括染色体微阵列分析以及基于二代测序技术的拷贝数变异测序。近年来,CNV检测技术在产前诊断...致病性拷贝数变异(pathogenic copy number variation,pCNV)所导致的基因组病,是出生缺陷的一类重要遗传学病因。目前用于检测CNV的技术主要包括染色体微阵列分析以及基于二代测序技术的拷贝数变异测序。近年来,CNV检测技术在产前诊断领域得到了广泛的应用。为规范这类技术的临床应用,我们制订了将CNV检测应用于产前诊断的指南,内容主要包括开展CNV分析进行产前诊断的基本要求、适用范围、临床检测及咨询流程、检测技术流程等,以更好地为患者服务。展开更多
Based on our theoretical studies and practical experience related to the digital resource evaluation activities,which were undertaken jointly by CALIS and Peking University Library,this paper discusses the targeted ob...Based on our theoretical studies and practical experience related to the digital resource evaluation activities,which were undertaken jointly by CALIS and Peking University Library,this paper discusses the targeted object,content,the structure and the attributes of CALIS evaluation indicator system for digital resources.We also offer a detailed guideline for professional practice in terms of using this particular indicator system to evaluate the viability and the collection strength of a given digital library.展开更多
文摘致病性拷贝数变异(pathogenic copy number variation,pCNV)所导致的基因组病,是出生缺陷的一类重要遗传学病因。目前用于检测CNV的技术主要包括染色体微阵列分析以及基于二代测序技术的拷贝数变异测序。近年来,CNV检测技术在产前诊断领域得到了广泛的应用。为规范这类技术的临床应用,我们制订了将CNV检测应用于产前诊断的指南,内容主要包括开展CNV分析进行产前诊断的基本要求、适用范围、临床检测及咨询流程、检测技术流程等,以更好地为患者服务。
文摘Based on our theoretical studies and practical experience related to the digital resource evaluation activities,which were undertaken jointly by CALIS and Peking University Library,this paper discusses the targeted object,content,the structure and the attributes of CALIS evaluation indicator system for digital resources.We also offer a detailed guideline for professional practice in terms of using this particular indicator system to evaluate the viability and the collection strength of a given digital library.
