Clinical interpretation of copy number variants in the human genome
Author:
Funder
Narodowe Centrum Nauki
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
http://link.springer.com/article/10.1007/s13353-017-0407-4/fulltext.html
Reference87 articles.
1. 1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061–1073
2. Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE (2009) Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 41(10):1061–1067
3. Alkan C, Coe BP, Eichler EE (2011) Genome structural variation discovery and genotyping. Nat Rev Genet 12(5):363–376
4. Barber JC (2005) Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42(8):609–629
5. Bateman MS, Mehta SG, Willatt L, Selkirk E, Bedwell C, Zwolinski S, Sparnon L, Simonic I, Abbott K, Barber JC (2010) A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect. Am J Med Genet A 152A(7):1764–1769
Cited by 102 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. Robust analysis of allele-specific copy number alterations from scRNA-seq data with XClone;Nature Communications;2024-08-06
2. Comparative Efficacy of CNV-Sequencing and Karyotyping in Prenatal Genetic Diagnosis;Biomedical Research and Therapy;2024-07-31
3. Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis;Cellular and Molecular Life Sciences;2024-07-27
4. Progresses in genetic testing in congenital heart disease;Medicine Plus;2024-06
5. The impact of FASTQ and alignment read order on structural variant calling from long-read sequencing data;PeerJ;2024-03-15
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