相关实验视频

Updated: Jul 9, 2026

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data
14:27

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data

Published on: June 26, 2013

15.6K

大规模应用ClinGen-InSiGHT APC特定的ACMG/AMP变种分类标准导致VUS的大幅减少

Xiaoyu Yin1, Marcy Richardson2, Andreas Laner3

  • 1Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, VIC, Australia; Department of Medicine, University of Melbourne, Parkville, VIC, Australia; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.

American journal of human genetics
|October 2, 2024
PubMed
概括

将APC基因变异分类的新标准显著减少了不确定的意义变异 (VUS) 的数量. 这一进步改善了家族性腺多重症,一种遗传性胃肠多重症综合征的遗传检测.

关键词:
在ACMG/AMP变种分类指南中.这是APC的APC.腺体多样性大肠杆菌.在ClinGen中,使用ClinGen.在 FAP FAP 里面.在InSiGHT中这是一种家族性腺瘤多重症.

更多相关视频

Using Informational Connectivity to Measure the Synchronous Emergence of fMRI Multi-voxel Information Across Time07:12

Using Informational Connectivity to Measure the Synchronous Emergence of fMRI Multi-voxel Information Across Time

Published on: July 1, 2014

12.3K
Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.1K

相关概念视频

Automated Microbial Diagnostics01:24

Automated Microbial Diagnostics

Automated diagnostic analyzers have transformed clinical microbiology by providing rapid and reliable methods for pathogen identification and antibiotic susceptibility testing. Among these systems, the Vitek 2 is widely used because it automates the traditionally labor-intensive processes of microbial identification (ID) and antibiotic susceptibility testing (AST), delivering standardized and timely results that are essential for effective patient care.Microbial Identification with ID CardsThe...