Extending genome-wide association studies to copy-number variation.

@article{McCarroll2008ExtendingGA,
  title={Extending genome-wide association studies to copy-number variation.},
  author={Steven A. McCarroll},
  journal={Human molecular genetics},
  year={2008},
  volume={17 R2},
  pages={R135-42}
}
Appreciating the contribution of human genome copy-number variation (CNV) to clinical phenotypes is one of the compelling genetics challenges of the coming years. It is increasingly possible to pursue such investigations as an extension of genome-wide association studies (GWAS), enabled by innovations in the design and analysis of SNP (single nucleotide polymorphism) arrays and by progress in determining the genomic locations and population-genetic properties of the CNVs that segregate in the… CONTINUE READING
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