A Likelihood-Based Framework for Association Analysis of Allele-Specific Copy Numbers.

ABSTRACT: Copy number variants (CNVs) and single nucleotide polymorphisms (SNPs) co-exist throughout the human genome and jointly contribute to phenotypic variations. Thus, it is desirable to consider both types of variants, as characterized by allele-specific copy numbers (ASCNs), in association studies of complex human diseases. Current SNP genotyping technologies capture the CNV and SNP information simultaneously via fluorescent intensity measurements. The common practice of calling ASCNs from the intensity measurements and then using the ASCN calls in downstream association analysis has important limitations. First, the association tests are prone to false-positive findings when differential measurement errors between cases and controls arise from differences in DNA quality or handling. Second,

SUBMITTER: Hu YJ 

PROVIDER: S-EPMC4315366 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature