InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines 摘要 2015年,美国医学遗传学和基因组学学院(ACMG)和分子病理学协会(AMP)根据28项标准发布了关于人类疾病序列变异临床解释的最新标准和指南。然而,由于对这些指南的不同理解以及缺乏实现它们的标准算法等原因,个体解释器之间的差异可...
基本信息 题目: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 作者:S. Richards等 期刊:Genetics in Medicine 发表时间:2015年3月 网址:https://www.na...
M. (2018). Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genet Med. doi:10.1038/gim.2017.210Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, et al. Modeling the ACMG/AMP variant classification guidelines as a ...
CONCLUSION By transforming the ACMG/AMP guidelines into a Bayesian framework, we provide a mathematical foundation for what was a qualitative heuristic. Only 2 of the 18 existing ACMG/AMP evidence combinations were mathematically inconsistent with the overall framework. Mixed combinations of pathogenic ...
在NGS 变异评估中实施 ACMG/AMP 指南 中国总部 | 其他分公司 北京市朝阳区望京北路 3 号 100102 全球电子邮件 +86 800-820-3278 +86 400-820-3278 全球联系电话 关于安捷伦 新闻中心 公司信息 投资商关系 工作 社会关系 与安捷伦合作 大学关系 环境、社会和公司治理 卓越的科学...
Marjorie Westbrook, PhD1, The Invitae Clinical Genomics Group2 and Scott Topper, PhD, FACMG1 Purpose: The 2015 American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a common framework for variant classificatio...
In vitro functional assays can provide useful lines of evidence to support variant classification but these are often labour-intensive, and there has been a lack of clarity in ACMG/AMP guidelines as to what constitutes a valid functional assay. Variant Curation Expert Panels (VCEPs) have developed...
信息学领域权威期刊《核酸研究》(Nucleic Acids Research,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 clin...
In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published updated standards and guidelines for the clinical interpretation of sequence variants with respect to human diseases on the basis of 28 criteria. However, variability betwe...
美国医学遗传学与基因组学学会(ACMG)和美国分子病理学会(AMP):基因变异解读标准和指南 Standards and guidelinesfor the interpretation of sequence variants: a joint consensus recommendationof the American College of Medical Genetics and Genomics and the Associationfor Molecular Pathology 摘要 ACMG之前公布过一个...