Hardy-Weinberg equilibrium revisited for inferences on genotypes featuring allele and copy-number variations

Andreas Recke, Klaus Günther Recke, Saleh Ibrahim, Steffen Möller, Reinhard Vonthein

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Copy number variations represent a substantial source of genetic variation and are associated with a plethora of physiological and pathophysiological conditions. Joint copy number and allelic variations (CNAVs) are difficult to analyze and require new strategies to unravel the properties of genotype distributions. We developed a Bayesian hidden Markov model (HMM) approach that allows dissecting intrinsic properties and metastructures of the distribution of CNAVs within populations, in particular haplotype phases of genes with varying copy numbers. As a key feature, this approach incorporates an extension of the Hardy-Weinberg equilibrium, allowing both a comprehensive and parsimonious model design. We demonstrate the quality of performance and applicability of the HMM approach with a real data set describing the Fcγ receptor (FcγR) gene region. Our concept, using a dynamic process to analyze a static distribution, establishes the basis for a novel understanding of complex genomic data sets.

Original languageBritish English
Article number9066
JournalScientific Reports
Volume5
DOIs
StatePublished - 2015

Fingerprint

Dive into the research topics of 'Hardy-Weinberg equilibrium revisited for inferences on genotypes featuring allele and copy-number variations'. Together they form a unique fingerprint.

Cite this