Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort

被引:0
作者
Armand Valsesia
Brian J Stevenson
Dawn Waterworth
Vincent Mooser
Peter Vollenweider
Gérard Waeber
C Victor Jongeneel
Jacques S Beckmann
Zoltán Kutalik
Sven Bergmann
机构
[1] University of Lausanne,Department of Medical Genetics
[2] Swiss Institute of Bioinformatics,Department of Medicine
[3] Ludwig Institute for Cancer Research,Service of Medical Genetics
[4] Medical Genetics/Clinical Pharmacology and Discovery Medicine,undefined
[5] GlaxoSmithKline,undefined
[6] Centre Hospitalier Universitaire Vaudois,undefined
[7] Institute for Genomic Biology and National Center for Supercomputing Applications,undefined
[8] University of Illinois,undefined
[9] Centre Hospitalier Universitaire Vaudois,undefined
来源
BMC Genomics | / 13卷
关键词
Copy Number Variation; Gaussian Mixture Model; Copy Number Variation Region; Copy Number Ratio; Rare CNVs;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 671 条
  • [1] Iafrate AJ(2004)Detection of large-scale variation in the human genome Nat Genet 36 949-951
  • [2] Feuk L(2006)Structural variation in the human genome Nat Rev Genet 7 85-97
  • [3] Rivera MN(2006)Global variation in copy number in the human genome Nature 444 444-454
  • [4] Listewnik ML(2005)Fine-scale structural variation of the human genome Nat Genet 37 727-732
  • [5] Donahoe PK(2005)Segmental duplications and copy-number variation in the human genome Am J Hum Genet 77 78-88
  • [6] Qi Y(2008)Genotype, haplotype and copy-number variation in worldwide human populations Nature 451 998-1003
  • [7] Scherer SW(2004)Large-scale copy number polymorphism in the human genome Science 305 525-528
  • [8] Lee C(2006)Copy number variation: new insights in genome diversity Genome Res 16 949-961
  • [9] Feuk L(2006)Hotspots for copy number variation in chimpanzees and humans Proc Natl Acad Sci U S A 103 8006-8011
  • [10] Carson AR(2008)Copy number variation and evolution in humans and chimpanzees Genome Res 18 1698-1710