Published in

Hindawi, Genetics Research, 2(92), p. 115-125, 2010

DOI: 10.1017/s0016672310000091

Links

Tools

Export citation

Search in Google Scholar

Including copy number variation in association studies to predict genotypic values

Journal article published in 2010 by M. P. L. Calus, D. J. De Koning ORCID, C. S. Haley
This paper is available in a repository.
This paper is available in a repository.

Full text: Download

Green circle
Preprint: archiving allowed
Green circle
Postprint: archiving allowed
Green circle
Published version: archiving allowed
Data provided by SHERPA/RoMEO

Abstract

SummaryThe objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation thereof, alone or together with a nearby single nucleotide polymorphism (SNP) in the model. This continuous measure of a CNP genotype could be a raw hybridization measurement, or a predicted CNP genotype. Results from simulations showed that the linkage disequilibrium (LD) between an SNP and CNP was lower than LD between two SNPs, due to the higher mutation rate at the CNP loci. The modelR2values from analysing the simulated data were very similar to theR2values predicted with the deterministic formulae. Under the assumption thatxcopies at a CNP locus lead to the effect ofxtimes the effect of 1 copy, including a continuous measure of a CNP locus in the model together with the genotype of a nearby SNP increased power to explain variation at the CNP locus, even when the continuous measure explained only 15% of the variation at the CNP locus.