Introduction and interpretation of the updated contents of the International System for Human Cytogenomic Nomenclature / 中华医学遗传学杂志

ABSTRACT

The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard used for describing genome rearrangement detected by chromosomal karyotyping, fluorescence in situ hybridization, microarray, a variety of specific region detection technologies and high-throughput sequencing. In 2019, the ISCN standing committee has revised the ISCN and officially published it in October 2020. This article has summarized the updated content of ISCN 2020.