title: Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.
abstract: The genetic dissection of complex disease remains a significant challenge. Sample-tracking and the recording, processing and storage of high-throughput laboratory data with public domain data, require integration of databases, genome informatics and genetic analyses in an easily updated and scaleable format. To find genes involved in multifactorial diseases such as type 1 diabetes (T1D), chromosome regions are defined based on functional candidate gene content, linkage information from humans and animal model mapping information. For each region, genomic information is extracted from Ensembl, converted and loaded into ACeDB for manual gene annotation. Homology information is examined using ACeDB tools and the gene structure verified. Manually curated genes are extracted from ACeDB and read into the feature database, which holds relevant local genomic feature data and an audit trail of laboratory investigations. Public domain information, manually curated genes, polymorphisms, primers, linkage and association analyses, with links to our genotyping database, are shown in Gbrowse. This system scales to include genetic, statistical, quality control (QC) and biological data such as expression analyses of RNA or protein, all linked from a genomics integrative display. Our system is applicable to any genetic study of complex disease, of either large or small scale.
authors.affiliation: Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Cambridge, CB2 2XY, UK.
authors.forename: Oliver S
authors.initials: OS
authors.lastname: Burren
authors.forename: Barry C
authors.initials: BC
authors.lastname: Healy
authors.forename: Alex C
authors.initials: AC
authors.lastname: Lam
authors.forename: Helen
authors.initials: H
authors.lastname: Schuilenburg
authors.forename: Geoffrey E
authors.initials: GE
authors.lastname: Dolman
authors.forename: Vincent H
authors.initials: VH
authors.lastname: Everett
authors.forename: Davide
authors.initials: D
authors.lastname: Laneri
authors.forename: Sarah
authors.initials: S
authors.lastname: Nutland
authors.forename: Helen E
authors.initials: HE
authors.lastname: Rance
authors.forename: Felicity
authors.initials: F
authors.lastname: Payne
authors.forename: Deborah
authors.initials: D
authors.lastname: Smyth
authors.forename: Chris
authors.initials: C
authors.lastname: Lowe
authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Barratt
authors.forename: Rebecca C J
authors.initials: RC
authors.lastname: Twells
authors.forename: Daniel B
authors.initials: DB
authors.lastname: Rainbow
authors.forename: Linda S
authors.initials: LS
authors.lastname: Wicker
authors.forename: John A
authors.initials: JA
authors.lastname: Todd
authors.forename: Neil M
authors.initials: NM
authors.lastname: Walker
authors.forename: Luc J
authors.initials: LJ
authors.lastname: Smink
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D019295:Computational Biology; D003628:Database Management Systems; D016208:Databases, Factual; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D004195:Disease Models, Animal; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D008040:Genetic Linkage; D016678:Genome; D015894:Genome, Human; D006801:Humans; D048088:Informatics / Q000379:methods*; D016247:Information Storage and Retrieval; D007256:Information Systems; D008954:Models, Biological; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D011786:Quality Control; D017422:Sequence Analysis, DNA