MMSplice: modular modeling improves the predictions of genetic variant effects on splicing
Author:
Publisher
Springer Science and Business Media LLC
Link
http://link.springer.com/content/pdf/10.1186/s13059-019-1653-z.pdf
Reference63 articles.
1. López-Bigas N, Audit B, Ouzounis C, Parra G, Guigó R. Are splicing mutations the most frequent cause of hereditary disease?FEBS Lett. 2005; 579(9):1900–3. https://doi.org/10.1016/j.febslet.2005.02.047 .
2. Li YI, van de Geijn B, Raj A, Knowles DA, Petti AA, Golan D, Gilad Y, Pritchard JK. RNA splicing is a primary link between genetic variation and disease. Science. 2016; 352(6285):600–4. https://doi.org/10.1126/science.aad9417 .
3. Wahl MC, Will CL, Lührmann R. The spliceosome: design principles of a dynamic RNP machine. Cell. 2009; 136(4):701–18.
4. Wang Z, Burge CB. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. Rna. 2008; 14(5):802–13.
5. Scotti MM, Swanson MS. RNA mis-splicing in disease. Nat Rev Genet. 2015; 17(1):19–32. https://doi.org/10.1038/nrg.2015.3 .
Cited by 160 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. Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors;Human Genomics;2024-08-28
2. Deep Learning Sequence Models for Transcriptional Regulation;Annual Review of Genomics and Human Genetics;2024-08-27
3. Rapid discrimination between deleterious and benign missense mutations in the CAGI 6 experiment;Human Genomics;2024-08-27
4. VCAT: an integrated variant function annotation tools;Human Genetics;2024-08-27
5. Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD;Genome Medicine;2024-08-15
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