Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Author:
Funder
Sir Jules Thorn Charitable Trust
Rosetrees Trust
NHMRC
NIH
Wellcome Trust
British Heart Foundation
National Human Genome Research Institute
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference36 articles.
1. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities;Chong;Am J Hum Genet,2015
2. 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;Richards;Genet Med,2015
3. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen);Riggs;Genet Med,2020
4. Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG);Bean;Genet Med,2020
5. Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource;Strande;Am J Hum Genet,2017
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts;Nature Genetics;2024-07-29
2. Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International;npj Genomic Medicine;2024-07-05
3. Curating genomic disease-gene relationships with Gene2Phenotype;2024-02-28
4. How have RPAS helped monitor forests and what can we apply in forest restoration monitoring?;Restoration Ecology;2023-12-12
5. The Human Phenotype Ontology in 2024: phenotypes around the world;Nucleic Acids Research;2023-11-11
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3