The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy Wu Kaili Li Jin Wang Hongyang Wang Qiuju Authors Info & Affiliations Published: 2024 -05 -07 · DOI: 10.3760/cma.j.cn115330-20231129-...
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantscancerpathogenic variantTP53variant curationGermline pathogenic variants in TP53 are associated with Li〧raumeni syndrome (LFS), a cancer predisposition disorder inherited in an autosomal dominant pattern associated with ...
ACMG (American College of Medical Genetics and Genomics) has published guidelines for the interpretation of genetic variants. These guidelines provide a framework for clinicians and geneticists to assess the pathogenicity of genetic mutations and theirrelevance to a patient's condition. The ACMG guidelin...
IF=14.9)在线发表了中南大学湘雅医院国家老年疾病临床医学研究中心/生物信息中心李津臣教授、赵贵虎助理研究员和李滨副研究员的最新研究成果《VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guid...
1.Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the...
interpretation; reporting; sequence variant terminology; variant reporting1 Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon, USA; 2 College of American Pathologists, Chicago, Illinois, USA; 3 GeneDx, Gaithersburg, Maryland,...
In this webcast, we introduce a new product VSClinical that enables the interpretation of variants following the ACMG Guidelines. By incorporating new algorithms and annotation sources, detailed variant scoring and classification can occur right within VarSeq and without the need for additional external ...
ACMG Guidelines for the Interpretation and Reporting of Sequence Variants. The American College of Medical Genetics and Genomics (ACMG) has developed guidelines to assist clinicians and laboratory professionals in the interpretation and reporting of sequence variants. These guidelines are based on the late...
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. 2.王秋菊, 沈亦平, 邬玲仟, 等. 遗传变异分类标准与指南. ...
鉴于变异数据的不断增长和变异诠释缺少统一规范化管理,早在2015年美国医学遗传学与基因组学学院(American College of Medical Genetics and Genomics,ACMG)就发表了一篇名为“Standards and guidelines for the interpretation of sequence variants”...