Combining human tissue and iPSC-derived cardiomyocyte eQTL datasets to understand noncoding genetic variants: boosting the cardiogenetics toolbox
Author:
Funder
Canadian Institutes of Health Research
Heart and Stroke Foundation of Canada
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1186/s13148-024-01721-y.pdf
Reference10 articles.
1. Zhang F, Lupski JR. Non-coding genetic variants in human disease. Hum Mol Genet. 2015;24:102–10. https://doi.org/10.1093/hmg/ddv259.
2. GTEx Consortium. The genotype-tissue expression (GTEx) project. Nat Genet. 2013;45:580–5. https://doi.org/10.1038/ng.2653.
3. Xiao F, Zhang X, Morton SU, Kim SW, Fan Y, Gorham JM, et al. Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease. Nat Genet. 2024;56:420–30. https://doi.org/10.1038/s41588-024-01669-y.
4. van Eif VWW, Protze SI, Bosada FM, Yuan X, Sinha T, van Duijvenboden K, Ernault AC, Mohan RA, Wakker V, de Gier-de VC, Hooijkaas IB, Wilson MD, Verkerk AO, Bakkers J, Boukens BJ, Black BL, Scott IC, Christoffels VM. Genome-wide analysis identifies an essential human TBX3 pacemaker enhancer. Circ Res. 2020;127(12):1522–35. https://doi.org/10.1161/CIRCRESAHA.120.317054.
5. Gacita AM, Fullenkamp DE, Ohiri J, Pottinger T, Puckelwartz MJ, Nobrega MA, McNally EM. Genetic variation in enhancers modifies cardiomyopathy gene expression and progression. Circulation. 2021;143(13):1302–16. https://doi.org/10.1161/CIRCULATIONAHA.120.050432.
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