Detection of CNVs in NGS Data Using VS-CNV
Author:
Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4939-8666-8_9
Reference25 articles.
1. Chance PF, Pleasure D (1993) Charcot-Marie-tooth syndrome. Arch Neurol 50:1180–1184
2. Conrad DF, Pinto D, Redon R et al (2010) Origins and functional impact of copy number variation in the human genome. Nature 464:704
3. Redon R, Ishikawa S, Fitch KR et al (2006) Global variation in copy number in the human genome. Nature 444:444–454
4. Lupski JR (2007) Genomic rearrangements and sporadic disease. Nat Genet 39:S43–S47
5. Stankiewicz P, Lupski JR (2010) Structural variation in the human genome and its role in disease. Annu Rev Med 61:437–455
Cited by 11 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. Analyzing Performance of Twist Bioscience Exome Enrichment with Spike-in CNV Backbone Panels at Various Probe Densities Leveraging Golden Helix VS-CNV Analysis Software;2024-05-21
2. A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts;Genetics in Medicine Open;2024
3. Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency;Frontiers in Pediatrics;2022-12-01
4. Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification;Kidney International Reports;2022-09
5. Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes;Blood;2022-08-25
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