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

Segraves R(2010)PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data Biostatistics 11 164-546

Jakobsson M(2010)A multilevel model to address batch effects in copy number estimation using SNP arrays Biostatistics 12 33-1674

Scholz SW(2009)R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips Bioinformatics 25 2621-2025

Scheet P(2010)cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs Nat Methods 7 541-1674

Gibbs JR(2007)PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data Genome Res 17 1665-520

VanLiere JM(2007)QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data Nucleic Acids Res 35 2013-1260

Fung HC(2005)Allele-specific amplification in cancer revealed by SNP array analysis PLoS Comput Biol 1 e65-1230

Szpiech ZA(2008)Automating dChip: toward reproducible sharing of microarray data analysis BMC Bioinformatics 9 231-918

Degnan JH(2007)PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data Genome Res 17 1665-1252

Wang K(2011)Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants Nat Biotechnol 29 512-712

Segraves R(2010)PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data Biostatistics 11 164-546

Jakobsson M(2010)A multilevel model to address batch effects in copy number estimation using SNP arrays Biostatistics 12 33-1674

Scholz SW(2009)R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips Bioinformatics 25 2621-2025

Scheet P(2010)cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs Nat Methods 7 541-1674

Gibbs JR(2007)PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data Genome Res 17 1665-520

VanLiere JM(2007)QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data Nucleic Acids Res 35 2013-1260

Fung HC(2005)Allele-specific amplification in cancer revealed by SNP array analysis PLoS Comput Biol 1 e65-1230

Szpiech ZA(2008)Automating dChip: toward reproducible sharing of microarray data analysis BMC Bioinformatics 9 231-918

Degnan JH(2007)PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data Genome Res 17 1665-1252

Wang K(2011)Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants Nat Biotechnol 29 512-712