Measuring intolerance to mutation in human genetics
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/s41588-019-0383-1.pdf
Reference56 articles.
1. Blake, J. A., Bult, C. J., Eppig, J. T., Kadin, J. A. & Richardson, J. E. The Mouse Genome Database genotypes:phenotypes. Nucleic Acids Res. 37, D712–D719 (2009).
2. Bartha, I., di Iulio, J., Venter, J. C. & Telenti, A. Human gene essentiality. Nat. Rev. Genet. 19, 51–62 (2018).
3. Eilbeck, K., Quinlan, A. & Yandell, M. Settling the score: variant prioritization and Mendelian disease. Nat. Rev. Genet. 18, 599–612 (2017).
4. Huang, N., Lee, I., Marcotte, E. M. & Hurles, M. E. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet. 6, e1001154 (2010).
5. Raybould, M. C., Birley, A. J. & Hultén, M. Molecular variation of the human elastin (ELN) gene in a normal human population. Ann. Hum. Genet. 59, 149–161 (1995).
Cited by 108 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. Cytochrome P450 monooxygenase systems: Diversity and plasticity for adaptive stress response;Progress in Biophysics and Molecular Biology;2024-11
2. ccdc141 is required for left-right axis development by regulating cilia formation in the Kupffer's vesicle of zebrafish;Journal of Genetics and Genomics;2024-09
3. Improving estimates of loss-of-function constraint for short genes;Nature Genetics;2024-07-15
4. Bayesian estimation of gene constraint from an evolutionary model with gene features;Nature Genetics;2024-07-08
5. Context-adjusted proportion of singletons (CAPS): a novel metric for assessing negative selection in the human genome;NAR Genomics and Bioinformatics;2024-07-02
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