[Key updates in the 2024 Edition of the International System for Human Cytogenomic Nomenclature (ISCN)].

Q4 Medicine
Hao Wang, Yi Lai, Juan Wen, Na Hao
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引用次数: 0

Abstract

The International System for Human Cytogenomic Nomenclature (ISCN) is a standardized international nomenclature system established by the International Standing Committee on Human Cytogenomic Nomenclature (ISCN SC). It is designed for describing chromosomal or genomic abnormalities detected by commonly used genetic and genomic techniques including but not limited to karyotyping, fluorescence in situ hybridization, microarray, genome mapping, various region-specific assays, and high-throughput sequencing. With a history spanning over six decades, the ISCN was revised by the ISCN SC in 2024 and officially published in September 2024. This article provides a summary for the updates introduced in the 2024 edition of the International System for Human Cytogenomic Nomenclature.

[国际人类细胞基因组命名系统(ISCN) 2024版的关键更新]。
国际人类细胞基因组学命名系统(ISCN)是由国际人类细胞基因组学命名常设委员会(ISCN SC)建立的标准化国际命名系统。它被设计用于描述通过常用的遗传和基因组技术检测到的染色体或基因组异常,包括但不限于核型、荧光原位杂交、微阵列、基因组制图、各种区域特异性测定和高通量测序。历经60余年的ISCN于2024年由ISCN SC修订,并于2024年9月正式发布。这篇文章提供了一个总结,在国际系统的人类细胞基因组命名2024版介绍的更新。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
中华医学遗传学杂志
中华医学遗传学杂志 Medicine-Medicine (all)
CiteScore
0.50
自引率
0.00%
发文量
9521
期刊介绍: Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
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