Article
Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays.
American journal of human genetics - 1 Jun 2008
Franke Lude, de Kovel Carolien G F, Aulchenko Yurii S, Trynka Gosia, Zhernakova Alexandra, Hunt Karen A, Blauw Hylke M, van den Berg Leonard H, Ophoff Roel, Deloukas Panagiotis, van Heel David A, Wijmenga Cisca
Abstract excerpt
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...
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