Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms

@inproceedings{Haraksingh2011GenomeWideMO,
  title={Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms},
  author={Rajini Rani Haraksingh and Alexej Abyzov and Mark Gerstein and Alexander E. Urban and Michael Snyder},
  booktitle={PloS one},
  year={2011}
}
Accurate and efficient genome-wide detection of copy number variants (CNVs) is essential for understanding human genomic variation, genome-wide CNV association type studies, cytogenetics research and diagnostics, and independent validation of CNVs identified from sequencing based technologies. Numerous, array-based platforms for CNV detection exist utilizing array Comparative Genome Hybridization (aCGH), Single Nucleotide Polymorphism (SNP) genotyping or both. We have quantitatively assessed… CONTINUE READING
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