文献检索文档翻译深度研究

邀请有礼套餐&价格历史记录

新学期，新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

不再提醒

插件&应用

Zotero 插件浏览器插件 Mac 客户端 Windows 客户端微信小程序

高级版

套餐订阅购买积分包

AI 工具

文献检索文档翻译深度研究

关于我们

关于 Suppr 公司介绍联系我们用户协议隐私条款

关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究

粤ICP备2023148730 号-1Suppr @ 2025

The ACMG/AMP reputable source criteria for the interpretation of sequence variants.

作者信息

Biesecker Leslie G, Harrison Steven M

机构信息

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Genet Med. 2018 Dec;20(12):1687-1688. doi: 10.1038/gim.2018.42.

DOI:10.1038/gim.2018.42

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6709533/

Abstract

摘要

相似文献

[1]

The ACMG/AMP reputable source criteria for the interpretation of sequence variants.

Genet Med. 2018-12

[2]

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement.

Genet Med. 2019-8

[3]

Comment on the criteria for interpretation of mitochondrial tRNA variants.

Genet Med. 2020-8

[4]

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Am J Hum Genet. 2016-6-2

[5]

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines.

Curr Protoc Hum Genet. 2019-9

[6]

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.

Genet Med. 2020-2

[7]

Correspondence on "The role of clinical response to treatment in determining pathogenicity of genomic variants" by Shen et al.

Genet Med. 2021-3

[8]

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.

Circ Genom Precis Med. 2018-6

[9]

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Hum Mutat. 2018-11

[10]

Application of ACMG criteria to classify variants in the human gene mutation database.

J Hum Genet. 2019-8-26

引用本文的文献

[1]

Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.

Liver Int. 2025-9

[2]

High Occurrence of a Missense Variant (c.471C>A) in the Gene Related to Hyperostosis-Hyperphosphatemia Syndrome With a Possible Founder Effect.

Hum Mutat. 2025-2-18

[3]

Adaptation of ACMG/AMP Guidelines for Clinical Classification of Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.

Hum Mutat. 2025-7-6

[4]

The global prevalence and genetic spectrum of primary carnitine deficiency.

BMC Genom Data. 2025-7-7

[5]

HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer.

Hum Genomics. 2025-7-4

[6]

Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools.

Hum Genomics. 2025-6-21

[7]

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Cancers (Basel). 2025-5-29

[8]

Identification of a novel variant causing type 3 catecholaminergic polymorphic ventricular tachycardia.

Front Pediatr. 2025-5-16

[9]

Splice‑site variant c.3531+1G>T in in a family with osteogenesis imperfecta.

Mol Med Rep. 2025-8

[10]

Germline Testing for Prostate Cancer Patients: Evidence-Based Evaluation of Genes Recommended by NCCN Guidelines.

Prostate. 2025-9

本文引用的文献

[1]

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Genet Med. 2017-5-11

[2]

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Genet Med. 2017-3-16

[3]

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Am J Hum Genet. 2016-7-7

[4]

ClinGen--the Clinical Genome Resource.

N Engl J Med. 2015-6-4

[5]

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. 2015-5

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

推荐工具

医学文档翻译智能文献检索