CONCLUSIONS: This paper describes a specific nomenclature for genome mapping that can be used by diagnostic and research centers to report their findings accurately. An international nomenclature is essential for patient results to be understood by different healthcare providers as well as for clear communication in publications and consistency in databases.
CONCLUSIONS: Genome mapping can detect aneuploidy, balanced and unbalanced structural variation, as well as copy number changes. The Standing Committee for the International System for Human Cytogenomic Nomenclature (ISCN) recognised there was a need for a specific nomenclature for genome mapping that encompasses the range of abnormalities detected by this technique. This paper explains the general principles of the nomenclature as well as giving specific ISCN examples for the different types of numerical and structural rearrangements.
结论:本文描述了基因组作图的特定命名法,可用于诊断和研究中心准确报告其发现。国际命名法对于不同的医疗保健提供者理解患者结果以及出版物中的清晰沟通和数据库中的一致性至关重要。
结论:基因组作图可以检测非整倍体,平衡和不平衡的结构变化,以及拷贝数的变化。国际人类细胞基因组命名法系统(ISCN)常设委员会认识到,需要一种特定的基因组图谱命名法,该命名法涵盖了通过这种技术检测到的异常范围。本文解释了命名法的一般原理,并为不同类型的数值和结构重排给出了具体的ISCN示例。