CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

被引:0
作者
Xiaowu Gai
Juan C Perin
Kevin Murphy
Ryan O'Hara
Monica D'arcy
Adam Wenocur
Hongbo M Xie
Eric F Rappaport
Tamim H Shaikh
Peter S White
机构
[1] The Children's Hospital of Philadelphia,Center for Biomedical Informatics
[2] The Children's Hospital of Philadelphia,Division of Oncology
[3] Children's Hospital of Philadelphia Research Institute,Department of Pediatrics
[4] University of Pennsylvania School of Medicine,Division of Genetics
[5] The Children's Hospital of Philadelphia,undefined
来源
BMC Bioinformatics | / 11卷
关键词
UCSC Genome Browser; Copy Number Change; Allelic Ratio; Circular Binary Segmentation; aCGH Data;
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 190 条
[1]  
Cook EH(2008)Copy-number variations associated with neuropsychiatric conditions Nature 455 919-923
[2]  
Scherer SW(2009)Copy number variants, diseases and gene expression Hum Mol Genet 18 R1-8
[3]  
Henrichsen CN(2006)A high-resolution survey of deletion polymorphism in the human genome Nat Genet 38 75-81
[4]  
Chaignat E(2004)Detection of large-scale variation in the human genome Nat Genet 36 949-951
[5]  
Reymond A(2006)Common deletion polymorphisms in the human genome Nat Genet 38 86-92
[6]  
Conrad DF(2006)Global variation in copy number in the human genome Nature 444 444-454
[7]  
Andrews TD(2005)Fine-scale structural variation of the human genome Nat Genet 37 727-732
[8]  
Carter NP(2003)Genomic microarrays in human genetic disease and cancer Hum Mol Genet 12 R145-152
[9]  
Hurles ME(2005)Segmental duplications and copy-number variation in the human genome Am J Hum Genet 77 78-88
[10]  
Pritchard JK(2007)A comprehensive analysis of common copy-number variations in the human genome Am J Hum Genet 80 91-104