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

Research output: Contribution to journalArticleScientificpeer-review


Original languageEnglish
Article number513
JournalScientific Reports
Publication statusPublished - 2012
Publication typeA1 Journal article-refereed


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.

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