DOI: 10.1093/bioinformatics/18.suppl_2.s110. A similarity-based method for genome-wide prediction of disease-relevant human genes

10.1093/bioinformatics/18.suppl_2.s110

Crossref journal-article

Oxford University Press (OUP)

Bioinformatics (286)

Abstract

Abstract Motivation: A method for prediction of disease relevant human genes from the phenotypic appearance of a query disease is presented. Diseases of known genetic origin are clustered according to their phenotypic similarity. Each cluster entry consists of a disease and its underlying disease gene. Potential disease genes from the human genome are scored by their functional similarity to known disease genes in these clusters, which are phenotypically similar to the query disease. Results:For assessment of the approach, a leave-one-out cross-validation of 878 diseases from the OMIM database, using 10672 candidate genes from the human genome, is performed. Depending on the applied parameters, in roughly one-third of cases the true solution is contained within the top scoring 3% of predictions and in two-third of cases the true solution is contained within the top scoring 15% of predictions. The prediction results can either be used to identify target genes, when searching for a mutation in monogenic diseases or for selection of loci in genotyping experiments in genetically complex diseases. Contact: jan.freudenberg@uni-bonn.de

Authors 2

J. Freudenberg (first)
P. Propping (additional)

References 0 Referenced 161

None

Dates

Type	When
Created	14 years, 3 months ago (May 9, 2011, 4:43 p.m.)
Deposited	2 years, 7 months ago (Jan. 25, 2023, 2:28 a.m.)
Indexed	2 months ago (June 26, 2025, 4:26 p.m.)
Issued	22 years, 11 months ago (Oct. 1, 2002)
Published	22 years, 11 months ago (Oct. 1, 2002)
Published Online	22 years, 11 months ago (Oct. 1, 2002)
Published Print	22 years, 11 months ago (Oct. 1, 2002)

Funders 0

None

BibTeX

@article{Freudenberg_2002, title={A similarity-based method for genome-wide prediction of disease-relevant human genes}, volume={18}, ISSN={1367-4803}, url={http://dx.doi.org/10.1093/bioinformatics/18.suppl_2.s110}, DOI={10.1093/bioinformatics/18.suppl_2.s110}, number={suppl_2}, journal={Bioinformatics}, publisher={Oxford University Press (OUP)}, author={Freudenberg, J. and Propping, P.}, year={2002}, month=oct, pages={S110–S115} }

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