Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Link
http://www.nature.com/articles/ncomms13293.pdf
Reference21 articles.
1. Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015).
2. Macarthur, D. G. et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 335, 823–829 (2012).
3. Collins, F. S. & Varmus, H. A new initiative on precision medicine. N. Engl. J. Med. 372, 793–795 (2015).
4. Ionita-Laza, I., Lange, C. M. & Laird, N. Estimating the number of unseen variants in the human genome. Proc. Natl Acad. Sci. USA 106, 5008–5013 (2009).
5. Gravel, S. Predicting discovery rates of genomic features. Genetics 197, 601–610 (2014).
Cited by 38 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. Specific Mutation Predict Relapse/Refractory Diffuse Large B-Cell Lymphoma;Journal of Blood Medicine;2024-09
2. Case report: Mutation evolution in a patient with TdT positive high grade B cell lymphoma with MYC and BCL2 rearrangements following the treatment of concurrent follicular lymphoma and diffuse large B-cell lymphoma;Discover Oncology;2024-04-25
3. Estimating clinical risk in gene regions from population sequencing cohort data;The American Journal of Human Genetics;2023-06
4. The outcome of ibrutinib-based regimens in relapsed/refractory central nervous system lymphoma and the potential impact of genomic variants;Advances in Clinical and Experimental Medicine;2023-03-07
5. Estimating clinical risk in gene regions from population sequencing cohort data;2023-01-09
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