相关实验视频

Updated: Jan 11, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

ClinMAVE:一个精心策划的数据库,用于从变异效应多重测定数据的临床应用

Chenyu Ma¹, Zhao Li^2,3,4, Xin Tang¹

¹State Key Laboratory of Complex, Severe, and Rare Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

Nucleic acids research

|November 14, 2025

概括

ClinMAVE是一个新的数据库,为数以百万计的遗传变异提供功能数据,有助于澄清不确定的意义 (VUS) 的变异,用于遗传疾病和癌症基因组学中的临床使用.

科学领域:

基因组学就是基因组学.
临床遗传学临床遗传学
生物信息学是一种生物信息学.

背景情况:

下一代测序产生了大量的遗传变异,许多被归类为不确定的意义 (VUS) 的变异.
VUS阻碍了临床应用,如风险评估,诊断和治疗选择.
多重变异效应测试 (MAVEs) 为变异特征提供高通量功能数据,由ACMG/AMP指南认可.

研究的目的:

开发ClinMAVE,一个为MAVE数据的临床应用策划的数据库.
解决现有的MAVE资源中缺乏协调的注释,结构化的证据分级和互操作性的问题.
弥合MAVE实验数据与遗传疾病和癌症基因组学临床标准之间的差距.

主要方法:

开发了ClinMAVE,一个数据库,将MAVE数据与临床和基因组资源集成在一起.
标准化的注释,提供了详细的测试背景,并实施了与ACMG/AMP一致的证据分级.
集成的ClinMAVE与ClinVar,gnomAD,TCGA以及in silico预测工具.

主要成果:

ClinMAVE包含了821个基因中超过210万种变异的功能证据.
该数据库提供标准化的注释,详细的测试上下文,以及与ACMG/AMP一致的证据分级.
ClinMAVE提供了一个统一的,为临床医生准备的平台,用于功能变异解释.

结论:

通过提供标准化,策划和整合的功能证据,ClinMAVE提高了MAVE数据的临床实用性.
该数据库有助于解释遗传性疾病和癌症中的遗传变异.
ClinMAVE代表了利用功能基因组学数据在常规临床实践中的重要一步.

更多相关视频

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

相关概念视频

Genomics

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...