Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays.

@article{Franke2008DetectionIA,
  title={Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays.},
  author={Lude Franke and Carolien Gerda Franciska De Kovel and Yurii S. Aulchenko and Gosia Trynka and Alexandra Zhernakova and Karen A. Hunt and Hylke M. Blauw and Leonard H van den Berg and Roel A. Ophoff and Panagiotis Deloukas and David A van Heel and Cisca Wijmenga},
  journal={American journal of human genetics},
  year={2008},
  volume={82 6},
  pages={
          1316-33
        }
}
Copy-number variation (CNV) is a major contributor to human genetic variation. Recently, CNV associations with human disease have been reported. Many genome-wide association (GWA) studies in complex diseases have been performed with sets of biallelic single-nucleotide polymorphisms (SNPs), but the available CNV methods are still limited. We present a new method (TriTyper) that can infer genotypes in case-control data sets for deletion CNVs, or SNPs with an extra, untyped allele at a high… CONTINUE READING
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