Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry
Author:
Funder
Michael Smith Foundation for Health Research
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-022-01193-9.pdf
Reference50 articles.
1. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic acids Res. 1987;15:7155–74.
2. Zhang M. Statistical features of human exons and their flanking regions. Hum Mol Genet. 1998;7:919–32.
3. Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017;19:192–203.
4. Bagnall RD, Ingles J, Dinger ME, Cowley MJ, Ross SB, Minoche AE, et al. Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2018;72:419–29.
5. Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 1992;90:41–54.
Cited by 4 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. 2023 in the European Journal of Human Genetics;European Journal of Human Genetics;2024-02
2. The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death;npj Genomic Medicine;2023-10-11
3. Reclassifying variants in genes associated with arrhythmogenic cardiomyopathies;Heart Rhythm;2023-08
4. Molecular explanations for variability of clinical phenotypes;European Journal of Human Genetics;2023-05
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