HGVS
网页2021年3月1日 · The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. Promote collection, documentation and free distribution of genomic variation information and …
HGVS Nomenclature
网页The HGVS Nomenclature is an internationally-recognized standard for the description of DNA, RNA, and protein sequence variants. It is used to convey variants in clinical reports and to share variants in publications and databases.
人类基因组变异标准命名（HGVS） | Public Library of Bioinformatics
网页人类基因组变异标准命名（HGVS）. 来源： 家树医疗科技 评论 8,742. 规范的命名是基因变异解读中不可或缺的一部分。. ACMG 变异分类标准建议对变异进行统一的标准化命名以确保定义明确并实现基因组信息的有效共享和下游使用。. 1998 年由人类基因组变异协会 ...
HGVS simple - HGVS Nomenclature
网页2024年8月12日 · To prevent confusion regarding its meaning, a standard has been developed for this language: the HGVS nomenclature. This standard is used world-wide, especially in human health and clinical diagnostics. This page will try to explain the standard, briefly and in simple terms.
HGVS规则下的变异命名 (一)| “官宣”的参考序列选择 - 知乎
网页HGVS 是Human Genome Variation Society（人类基因组变异协会）的简称，是一个非政府的民间学术组织，其官方网站的网址： hgvs.org/。. HGVS命名规则由 HGVS （the Human Genome Variation）、 HVP （the Human Variome Project）、 HUGO （the Human Genome Organizaion）共同制定。. 目前基因检测 ...
Basics - HGVS Nomenclature
网页2024年8月12日 · Basics. The HGVS nomenclature standard is authorised by the HUman Genome Organisation (HUGO). Activities regarding the nomenclature go through the HGVS Variant Nomenclature Committee (HVNC), a working group of the "HUGO Nomenclature Standards Committee", with administrative support of the HUGO office. HUGO became the guardian of the HGVS ...
HGVS变异命名规则（二）| 通用规则 - 知乎 - 知乎专栏
网页在明确变异类型时，hgvs建议分别在dna、rna和蛋白质水平进行确认。 在DNA水平上，发现了一个替换变异，在RNA水平上，是一个插入变异，在蛋白质水平，是一个移码变异。
GUIDELINES | Human Genome Variation Society - HGVS
网页2021年3月1日 · GUIDELINES & RECOMMENDATIONS. Members of the Society have formulated Guidelines & Recommendations on a number of topics, but especailly for nomenclature of gene variations and guidelines on variation databases. GUIDELINES FOR VARIATION NOMENCLATURE.
About HGVS | Human Genome Variation Society
网页2021年3月1日 · The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. We will promote collection, documentation and free distribution of genomic variation information and associated clinical variations and endeavor to foster the development of the necessary methodology and ...
Sequence Variant Nomenclature
网页This site covers HGVS nomenclature, the recommendations for the description of sequence variants in DNA, RNA and protein sequences. It is used to report and exchange information of such variants and serves as an international standard.