reconstructing cnv genotypes using segregation analysis combining pedigree information with cnv assay重建cnv基因型与cnv化验使用隔离分析结合背景信息.pdfVIP

Henshall et al. Genetics Selection Evolution 2010, 42:34 Ge n e t i c s /content/42/1/34 Se l e c t i o n Evolution RESEARCH Open Access Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay 1* 2 2 John M Henshall , Vicki A Whan , Belinda J Norris Abstract Background: Repeated blocks of genome sequence have been shown to be associated with genetic diversity and disease risk in humans, and with phenotypic diversity in model organisms and domestic animals. Reliable tests are desirable to determine whether individuals are carriers of copy number variants associated with disease risk in humans and livestock, or associated with economically important traits in livestock. In some cases, copy number variants affect the phenotype through a dosage effect but in other cases, allele combinations have non-additive effects. In the latter cases, it has been difficult to develop tests because assays typically return an estimate of the sum of the copy number counts on the maternally and paternally inherited chromosome segments, and this sum does not uniquely determine the allele configuration. In this study, we show that there is an old solution to this new problem: segregation analysis, which has been used for many years to infer alleles in pedigreed populations. Methods: Segregation analysis was used to estimate copy number alleles from assay data on simulated half-sib sheep populations. Copy number variat