NDLI: Towards Identification of Human Disease Phenotype-Genotype Association via a Network-Module Based Method

Content Provider	IEEE Xplore Digital Library
Author	Jiang, J.Q. Dress, A. Ming Chen
Copyright Year	2009
Abstract	Inspired by recent discovery that human disease phenome shows a modular organization on the genetic landscape, we introduce a network-module based method towards phenotype-genotype association inference and disease-gene identification. This approach integrates protein-protein interaction network, phenotype similarity network and knownphenotype-genotype associations, and then decomposes the resulted assembled network into modules (or communities wherein we identified and prioritized the disease genes fromthe candidates within the loci associated with the query disease using a linear regression model and concordance score. For the known phenotype-gene associations in the OMIM database, we used the leave-one-out validation to evaluate the feasibility of our method, and successfully ranked known disease genes at top 1 in 887 out of 1807 cases. Moreover, applying this approach on 850 OMIM loci characterized by an unknown molecular basis, we propose high-probability candidates for 81 genetic diseases.
Starting Page	222
Ending Page	227
File Size	598452
Page Count	6
File Format	PDF
ISBN	9780769538853
DOI	10.1109/BIBM.2009.88
Language	English
Publisher	Institute of Electrical and Electronics Engineers, Inc. (IEEE)
Publisher Date	2009-11-01
Publisher Place	USA
Access Restriction	Subscribed
Rights Holder	Institute of Electrical and Electronics Engineers, Inc. (IEEE)
Subject Keyword	concordance score Linear regression Genetic mutations Humans Genomics disease gene identification phenotype-genotype association Diseases Proteins network module Databases Bioinformatics Assembly Computational biology
Content Type	Text
Resource Type	Article

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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