Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts
Author:
Funder
European Commission
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-39796-w.pdf
Reference65 articles.
1. Richter, S. et al. Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling. Ann Oncol 24(Suppl 8), viii69–viii74 (2013).
2. Cheon, J. Y., Mozersky, J. & Cook-Deegan, R. Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come? Genome Med 6, 121 (2014).
3. Campuzano, O., Allegue, C., Fernandez, A., Iglesias, A. & Brugada, R. Determining the pathogenicity of genetic variants associated with cardiac channelopathies. Sci Rep 5, 7953 (2015).
4. Schulz, W. L., Tormey, C. A. & Torres, R. Computational Approach to Annotating Variants of Unknown Significance in Clinical Next Generation Sequencing. Lab Med 46, 285–9 (2015).
5. Eoh, K. J. et al. Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients. Cancer Res Treat 49, 408–415 (2017).
Cited by 19 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. Algorithmic assessment reveals functional implications of GABRD gene variants linked to idiopathic generalized epilepsy;International Journal of Neuroscience;2024-02-09
2. Incorporating functional genomics into the pathology-supported genetic testing framework implemented in South Africa: A future view of precision medicine for breast carcinomas;Mutation Research - Reviews in Mutation Research;2024-01
3. The Role of Genetics in the Management of Heart Failure Patients;International Journal of Molecular Sciences;2023-10-16
4. Clinical outcomes and response to chemotherapy in a cohort of pancreatic cancer patients with germline variants of unknown significance (VUS) in BRCA1 and BRCA2 genes;Cancer Chemotherapy and Pharmacology;2023-09-19
5. Basic science methods for the characterization of variants of uncertain significance in hypertrophic cardiomyopathy;Frontiers in Cardiovascular Medicine;2023-08-01
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