Estimating copy numbers of alleles from population-scale high-throughput sequencing data

[1] McCarroll SA(2005)A haplotype map of the human genome Nature 437 1299-1320

[2] Altshuler DM(2010)Integrating common and rare genetic variation in diverse human populations Nature 467 52-58

[3] Stranger BE(2010)A map of human genome variation from population-scale sequencing Nature 467 1061-1073

[4] Forrest MS(2007)Copy-number variation and association studies of human disease Nature genetics 39 37-42

[5] Dunning M(2007)Relative impact of nucleotide and copy number variation on gene expression phenotypes Science 315 848-853

[6] Ingle CE(2009)Copy number variation in human health, disease, and evolution Annual review of genomics and human genetics 10 451-481

[7] Beazley C(2011)Implications of gene copy-number variation in health and diseases Journal of human genetics 57 6-13

[8] Thorne N(2009)Comparing CNV detection methods for SNP arrays Briefings in functional genomics & proteomics 8 353-366

[9] Redon R(2009)Computational methods for discovering structural variation with next-gene rati on sequencing Nature methods 6 13-20

[10] Bird CP(2011)CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing Genome research 21 974-984

[1] McCarroll SA(2005)A haplotype map of the human genome Nature 437 1299-1320

[2] Altshuler DM(2010)Integrating common and rare genetic variation in diverse human populations Nature 467 52-58

[3] Stranger BE(2010)A map of human genome variation from population-scale sequencing Nature 467 1061-1073

[4] Forrest MS(2007)Copy-number variation and association studies of human disease Nature genetics 39 37-42

[5] Dunning M(2007)Relative impact of nucleotide and copy number variation on gene expression phenotypes Science 315 848-853

[6] Ingle CE(2009)Copy number variation in human health, disease, and evolution Annual review of genomics and human genetics 10 451-481

[7] Beazley C(2011)Implications of gene copy-number variation in health and diseases Journal of human genetics 57 6-13

[8] Thorne N(2009)Comparing CNV detection methods for SNP arrays Briefings in functional genomics & proteomics 8 353-366

[9] Redon R(2009)Computational methods for discovering structural variation with next-gene rati on sequencing Nature methods 6 13-20

[10] Bird CP(2011)CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing Genome research 21 974-984