Fast detection of de novo copy number variants from SNP arrays for case-parent trios

被引:0
作者
Robert B Scharpf
Terri H Beaty
Holger Schwender
Samuel G Younkin
Alan F Scott
Ingo Ruczinski
机构
[1] Johns Hopkins University,Department of Oncology
[2] Johns Hopkins Bloomberg School of Public Health,Department of Epidemiology
[3] Heinrich-Heine-University Düsseldorf,Mathematical Institute
[4] Johns Hopkins University,Department of Medicine
[5] Johns Hopkins Bloomberg School of Public Health,Department of Biostatistics
来源
BMC Bioinformatics | / 13卷
关键词
Trios; Oral cleft; Copy number variants; de novo; High-throughput arrays; Segmentation; batch effects; Genomic waves;
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 598 条
[1]  
Redon R(2006)Global variation in copy number in the human genome Nature 444 444-454
[2]  
Ishikawa S(2008)Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia Science 320 539-543
[3]  
Fitch KR(2008)Structural variation of chromosomes in autism spectrum disorder Am J Hum Genet 82 477-488
[4]  
Feuk L(2009)Disruption of the neurexin 1 gene is associated with schizophrenia Hum Mol Genet 18 988-996
[5]  
Perry GH(2006)BioHMM: a heterogeneous hidden Markov model for segmenting array CGH data Bioinformatics 22 1144-1146
[6]  
Andrews TD(2008)Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms Nucleic Acids Res 36 e126-739
[7]  
Fiegler H(2010)Tackling the widespread and critical impact of batch effects in high-throughput data Nat Rev Genet 11 733-572
[8]  
Shapero MH(2004)Circular binary segmentation for the analysis of array-based DNA copy number data Biostatistics 5 557-766
[9]  
Carson AR(2005)A statistical approach for array CGH data analysis BMC Bioinformatics 6 27-663
[10]  
Chen W(2007)A segmentation/clustering model for the analysis of array CGH data Biometrics 63 758-318