Sequencing and characterizing short tandem repeats in the human genome
Author:
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41576-024-00692-3.pdf
Reference159 articles.
1. Horton, C. A. et al. Short tandem repeats bind transcription factors to tune eukaryotic gene expression. Science 381, eadd1250 (2023).
2. Ziaei Jam, H. et al. A deep population reference panel of tandem repeat variation. Nat. Commun. 14, 6711 (2023). This work provides an ensemble calling framework for tandem repeats and a phased haplotype panel to impute tandem repeats.
3. Lander, E. S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001).
4. Halman, A., Dolzhenko, E. & Oshlack, A. STRipy: a graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data. Hum. Mutat. 43, 859–868 (2022).
5. Depienne, C. & Mandel, J.-L. 30 years of repeat expansion disorders: what have we learned and what are the remaining challenges? Am. J. Hum. Genet. 108, 764–785 (2021). This review article provides a succinct overview of the timeline of discovery and advances in the understanding of repeat expansion disorders.
Cited by 15 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. Overexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients;Gene;2024-12
2. The repertoire of short tandem repeats across the tree of life;2024-08-09
3. Expression quantitative trait locus mapping in recombinant gametes using single nucleus RNA sequencing;2024-08-06
4. Clinical application of whole genome sequencing in young onset dementia: challenges and opportunities;Expert Review of Molecular Diagnostics;2024-08-02
5. Advancements and future perspectives of human tandem repeats;Science Bulletin;2024-08
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