A Bayesian analysis of the chromosome architecture of human disorders by integrating reductionist data

Sci Rep. 2012:2:513. doi: 10.1038/srep00513. Epub 2012 Jul 20.


In this paper, we present a Bayesian approach to estimate a chromosome and a disorder network from the Online Mendelian Inheritance in Man (OMIM) database. In contrast to other approaches, we obtain statistic rather than deterministic networks enabling a parametric control in the uncertainty of the underlying disorder-disease gene associations contained in the OMIM, on which the networks are based. From a structural investigation of the chromosome network, we identify three chromosome subgroups that reflect architectural differences in chromosome-disorder associations that are predictively exploitable for a functional analysis of diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Bayes Theorem
  • Chromosome Disorders / genetics*
  • Computational Biology / methods
  • Databases, Genetic
  • Genetic Association Studies
  • Humans
  • Internet
  • Lod Score
  • Male
  • Models, Statistical
  • Molecular Sequence Annotation
  • Open Reading Frames
  • Physical Chromosome Mapping*