Detection of Copy Number Variation Using SNP Genotyping
Author:
Publisher
Humana Press
Link
http://link.springer.com/content/pdf/10.1007/978-1-61779-201-4_18.pdf
Reference21 articles.
1. Perry GH, Dominy NJ, Claw KG, et al. (2007) Diet and the evolution of human amylase gene copy number variation. Nat Genet 39:1256–60.
2. Mefford HC, Eichler EE. (2009) Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 19:196–204.
3. Fanciulli M, Petretto E, Aitman TJ. (2009) Gene copy number variation and common human disease. Clin Genet 77:201–13.
4. Henrichsen CN, Chaignat E, Reymond A. (2009) Copy number variants, diseases and gene expression. Hum Mol Genet 18:R1-8.
5. Merla G, Howald C, Henrichsen CN, et al. (2006) Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 79:332–41.
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. Demuxalot: scaled up genetic demultiplexing for single-cell sequencing;2021-05-23
2. Variants of uncertain significance in prenatal microarrays: a retrospective cohort study;BJOG: An International Journal of Obstetrics & Gynaecology;2020-08-18
3. The Spectrum of Genetic Testing;Seminars in Oncology Nursing;2019-02
4. Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?;Frontiers in Genetics;2017-05-01
5. A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?;Frontiers in Pediatrics;2017-03-21
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