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Mining Brain-Related Transcription Factor-Disease Relationships for Novel Linkages

Mining Brain-Related Transcription Factor-Disease Relationships for Novel Linkages. Warren Cheung 1,3,4 , BF Francis Ouellette 2,3 , Wyeth W Wasserman 2,4. 1 Bioinformatics Program, University of British Columbia, Vancouver, BC, Canada. E-mail: wac@dnahelix.org

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Mining Brain-Related Transcription Factor-Disease Relationships for Novel Linkages

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  1. Mining Brain-Related Transcription Factor-Disease Relationships for Novel Linkages Warren Cheung1,3,4, BF Francis Ouellette2,3, Wyeth W Wasserman2,4 1 Bioinformatics Program, University of British Columbia, Vancouver, BC, Canada. E-mail: wac@dnahelix.org 2 Department of Medical Genetics, University of British Columbia.3 University of British Columbia Bioinformatics Centre.4 Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute. • TF-Cat 4 • Annotated transcription factor database • PAZAR 4 • database of gene regulatory elements • NCBI Entrez Gene • Gene Reference into Function annotations • Gene Ontology annotations Entrez Gene Specialised Databases TF Cat PAZAR Discovering Links Between Genes and Disease • NLM Medical Subject Heading • controlled vocabulary thesaurus Medical Subject Headings (MeSH) Unified Medical Language System (UMLS) • NLM UMLS Metathesaurus • database of medical terminologies Atlas Data Warehouse UniProt RefSeq Gene Ontology (GO) Terms SnoMed CT ICD 9/10 HPRD GenBank Gene Ontology Annotation BIND • Validation • Freeze database contents at a cut-off date and compare against more recent discoveries. • Withhold and verify using the Mendelian Inheritance in Man (MIM) Database (Online) Mendelian Inheritance in Man PubMed • Atlas Data Warehouse 3 • unified access to nucleotide, protein, interactions and ontology annotations Design MeSH Annotations Goals • Open Access • Integrated, Unified Repository • Efficient Programmatic Framework • Exploration of Gene-Disease Relationships Statistics Results Future Work • Statistical Evaluation of Support • Secondary and Tertiary Relationships

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