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International Biobank and Cohort Studies: Developing a Harmonious Approach February 7-8, 2005, Atlanta; GA. Jan-Eric Litton Karolinska Institutet, Stockholm Sweden. Karolinska Institutet GenomEUtwin Karolinska Institutet Biobank LifeGene. Karolinska Institutet Stockholm, Sweden.
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International Biobank and Cohort Studies: Developing a Harmonious ApproachFebruary 7-8, 2005, Atlanta; GA Jan-Eric Litton Karolinska Institutet, Stockholm Sweden • Karolinska Institutet • GenomEUtwin • Karolinska Institutet Biobank • LifeGene
Karolinska Institutet Stockholm, Sweden
Stockholm … an archipelago with 30.000 ilands
War and cholera led to the royal decree ... A letter from King Karl XIII to the Collegium Medicum in 1810 authorized the immediate establishment of a ”college for the corps of field surgeons”.
From a school for army surgeons to a medical university 1810 The Royal Carolinska Medico-Surgical Institute was founded ”forthe creation of skilled Army Surgeons”. 1811 Jöns Jacob Berzelius became one of KI’s first professors and laid the foundation for the Institute’s natural-scientific orientation. 1895 Alfred Nobel appointed Karolinska Institutet to decide who should be awarded the Nobel Prize in Physiology or Medicine. 1993 A comprehensive reorganization of KI began: 150 departments became 27.
GenomEUtwin • The European Consortium of Twin Registries for Analyses of Complex Traits; www.genomeutwin.org • Aims to capitalize special advantages of Europe in population genetics • The goal is to identify critical genetic and life-style risk factors for common diseases using European strengths in genetics, epidemiology and biocomputing
GenomEUtwin • Funded by EU as one of three Centers of Excellence in Genomics in 2002, PI: Leena Peltonen • Twin cohort from Denmark, Finland, Italy Netherlands, Norway and Sweden (England and Australia) over 600 000 twin pairs total, 65% dizygotic • MORGAM cohort from 9 European countries, total of > 144 000 participants
GenomEUtwin • Twin Cohorts have been used for decades to estimate to role of genetics in the background of common diseases • Gathering phenotype info for decades • In Sweden • Civic # 1947 • Swedish Cancer Registry 1958 • The Cause of Dead Registry, started 1756, modern classification 1961
TwinNET • Ten first months • a database structure established • Database completion • A common, secure database established in Europe for all relevant scientific information in GenomEUtwin
TwinNET • EUid number (EUIDNUM) 752000021210 • The EUidnumber consists of four parts: • Country code 3 digits – ISO 3166 • Randomized number 7 digits • Identification number 1 digit Check sum 1 digit
ODBC – JDBC and more Federated data approch • Data stay untouched • Integrates • heterogeneous local or • remote data sources • through wrappers • Just need to know what • data should be available • to whom and how to access them • It makes all data look • like it is one virtual database • hiding the data layer complexity
TwinNET • Relational wrappers list • DB2 family • Informix (Informix Client SDK) • Oracle (SQLNet or Net8 client) • MSQL Server (ODBC driver version 3.0 or later) • Sybase (Sybase open client) • Teradata (Teradata CLI) • ODBC (ODBC driver version 3.x) • Non-relational wrappers list • Lotus Extended search • Excel • Flatfile (CSV format) • XML (1.0 specifications) • OLE DB • BLAST • Documentum (Documentum client API) • Entrez (version 1.0)
FinnishTwin Registry Genotypes SwedishTwin Registry TwinNET GenomEUtwin centres databases GenomEUtwin user Federated database HUB FinnishTwin Registry Genotypes SwedishTwin Registry
TwinNET December 2004 SQL SMdb Genotype submission database Helsinki IBM xSeries 325 2xOpteron, 4GB, SAN WEB Database federation – Information Integrator Genotypes Phenotypes SSH Excel sheet SSH SSH Stockholm GT GT GT DK FGCHelsinki Mol Med Rudbeck lab Uppsala NO FI SE
Karolinska Institutet Biobank • Karolinska Institute Biobank constitutes a national, non-commercial resource for collection, handling and storage of human biological material aiming at promoting scientific excellence within molecular and • genetic research. • Biobank Informatic is a central part of the Karolinska Institutets Biobank
Biobank Information Management System - vision A system that will enable a researcher to search and navigate the enormous amounts of information available for samples and their donors in various data sources.
Biobank Information Management System
Biobank Information Management System
Biobank Information Management System • DDQB- Absract Data Model Data Abstraction Model (DAM) C Database C User View C Access Methods F F F F F F F Abstract Query
Biobank Information Management System
LifeGene A Swedish Population-based Project on Lifestyle, Genomics and Health
LifeGene • Study of aetiology of diseases with high health care and economic impact • Prospective highly motivated and well characterized cohort with 5-800,000 • Ascertainment of nuclear families • Ages 0-39: infections, asthma and allergy, obesity and diabetes, mental disorders and cognitive dysfunction • Ages 40-64: CVD, diabetes, neurodegenerative disorders, cancer