ACMG
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) …
ACMG 评级指南与临床指导 - 知乎 - 知乎专栏
ACMG，全称为American College of Medical Genetics and Genomics美国医学遗传学与基因组学学会。 利用新一代测序技术, 临床实验室检测遗传性疾病的产品种类不断增加, 包括基因分型 …
《ACMG遗传变异分类标准与指南》入门 - 知乎 - 知乎专栏
《ACMG（美国医学遗传学和基因组学学会）遗传变异分类标准与指南》 1、是什么. 是一套用于评估和解读基因变异的临床标准。 这些标准旨在帮助临床遗传学家和分子遗传学实验室更准确 …
Standards and guidelines for the interpretation of sequence …
This report represents expert opinion of the workgroup with input from ACMG, AMP, and College of American Pathologists stakeholders. These recommendations primarily apply to the breadth …
A disease-specific language model for variant pathogenicity in
6 天之前 · ClinVar CM and ARM datasets, which include all missense variants in CM and ARM, respectively, were extracted from ClinVar 11. Missense CM and ARM sequences were …
What We Do - acmgfoundation.org
As the fundraising arm of the American College of Medical Genetics and Genomics, the ACMG Foundation serves as the conduit for change through raising financial support for existing …
GitHub - bihealth/auto-acmg: Automatic classification of …
An automatic tool for the classification of sequence variants along ACMG criteria. For further information, please refer to the documentation. Automatic classification of sequence variants …
Utility of ACMG classification to support interpretation of …
2023年7月14日 · The ACMG classification uses a specific standard terminology to describe gene variants that are the cause of Mendelian disorders and is based on a complex process for …
知识扩展---遗传病基因检测与ACMG分级 - CSDN博客
2024年11月7日 · acmg制定关于孟德尔遗传病变异解读标准与指南（什么发生了变异，变异到什么程度 → 可能导致疾病的发生），提出了28条独立的诊断证据和最终判定的5条诊断结论，辅 …
ACMG指南-MedSci.cn
2016年7月，美国医学遗传学与基因组学学会(acmg)更新发布了关于胎儿染色体非整倍体无创产前筛查的立场声明，该立场声明主要作为一种教育资源为帮助临床医生提供更加优质的医疗服 …
- 某些结果已被删除