Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum
Author:
Affiliation:
1. Department of Translational Genomics University of Southern California Los Angeles California USA
2. Keck School of Medicine of USC University of Southern California Los Angeles California USA
Funder
National Cancer Institute
Publisher
Hindawi Limited
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24394
Reference176 articles.
1. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential
2. Role of whole exome sequencing for unidentified genetic syndromes
3. Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer
4. New Attempts to Define and Clarify Lupus
5. Detecting Cancer Outlier Genes with Potential Rearrangement Using Gene Expression Data and Biological Networks
Cited by 6 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. Impact of genome build on RNA-seq interpretation and diagnostics;2024-01-12
2. RNA Sequencing of Urine‐Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta;Journal of Bone and Mineral Research;2023-06-23
3. Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation;Frontiers in Molecular Neuroscience;2023-04-28
4. Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders;Expert Review of Hematology;2023-03-15
5. De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease;Journal of Clinical Immunology;2022-08-23
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