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Pilot WP6.4 Genomics and colon cancer Madrid March 2005

Pilot WP6.4 Genomics and colon cancer Madrid March 2005. AZ. Genomic & colon cancer WP 6.4. KI. UEdin. FUNEN. HNPCC. ACTA. HHUD. Custodix. FIMIM. INFORMA. IMIM. UAVR. ISCIII. UPM. FORTH. HNPCC-register. Today: Hard copy. 4 genetic dept. 4 laboratories 50 surg.dept.

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Pilot WP6.4 Genomics and colon cancer Madrid March 2005

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  1. Pilot WP6.4 Genomics and colon cancer Madrid March 2005

  2. AZ Genomic & colon cancer WP 6.4 KI UEdin FUNEN HNPCC ACTA HHUD Custodix FIMIM INFORMA IMIM UAVR ISCIII UPM FORTH

  3. HNPCC-register Today: Hard copy 4 genetic dept. 4 laboratories 50 surg.dept. >20 gyn.dept. Future requirements: Interoperability Communication Further IT-support Web-reporting of data

  4. Genetic Department Surgical Department Århus Odense Vejle Laboratory Ålborg Hvidovre Århus Hvidovre Århus Ålborg Odense Herning Hvidovre Copenhagen Invited departments

  5. Jyvaskyla-Finland Lund-Sweden Düsseldorf-Germany Invited HNPCC-registers Leiden-Holland

  6. Data-flow Genetic. Consultance Genetic. Consultance HNPCC HNPCC Heterogeneous Genetic. Consultance Genetic. Consultance Surgical department (50) Laboratory Examination & Results Surveillance Examination & Results Historical Clinical Information Laboratory Examination & Results Laboratory Examination & Results Laboratory Examination & Results

  7. Visit- Status National Workshop S WEB WEB G XML/HL7 L XML/HL7 Disc. papers R Visit- Status International Workshop R Sep/Oct November March December Jan/Feb Pre- analysis Status report

  8. Details of work (Months 1-12 18)   Month 1- 3 • Orientation and Cooperation interest - Responsible partner: HNPCC • Additional – Perspective -Responsible: FUNEN-HNPCC International & Other oncogenetic diseases Month 2-52-6 • Preanalysis - description of actual status - Responsible: FUNEN-HNPCC • Discussion papers - common platform-tools-integration requirements Responsible partners: HNPCC-FUNEN- KI-CUSTODIX-FORTH-HHUD-UPM Input: Participating Departments & Registers • Danish Follow-up meeting 18.October 2004 - Cooperation agreements Responsible: FUNEN-HNPCC – 6.December 2004 Month 5-9 6-12 • International consensus- Conference on Discussion papers 11.Marts 2005 • Draft XML / HL7 standards HNPCC Pheno-/Geno-type - Responsible: FUNEN Month 10-12 12-18 • Implementation and – Responsible partners : FUNEN-HNPCC • Status-report - Responsible partners: HNPCC-FUNEN-KI-CUSTODIX-FORTH-HHUD-UPM Input: Participating department & Registers   

  9. HNPCC - standards • Family data - Phenotype • Individual data - Phenotype • Mutations/SNPs - Genotype • Surveillance - Phenotype

  10. Onco- genetic Genetic Diseases National International Polyposis HOL-LAND SWE-DEN FIN-LAND HNPCCDENMARK GER-MANY Mamma- Cancer

  11. 4 XML-standards Pedigree-information XSD XSD XSD XSD WSDL WSDL WSDL WSDL

  12. Interface models Surgery Department Web-based Interface (XSD) Molecular Laboratory Web-based Interface (XSD) Genetic Department Central Database Web-based Interface (XSD) Tool Tool Pedigree Programme XML-file Datafile Tool

  13. Laboratory Mutations/SNPs GENOTYPE LEICESTER Data validation HHUD Data-flow Genetic.dept. FENOTYPE KAROLINSKA ? Family XML/HL7 Pedegree tools FORTH? UPM? ISCIII? Individual XML/HL7 Collaboration CUSTODIX Genetic.dept. FENOTYPE KAROLINSKA ? Genetic.dept. PHENOTYPE LEICESTER HNPCC HNPCC Mutation XML/HL7 FORTH ? WEB Hard copy Surgical department Surveillance Exam.& results PHENOTYPE Historical Clinical data PHENOTYPE

  14. Workshop WP 6.4: Genomics and colon cancer Copenhagen Friday 11.th. Of March 2005 10:00 – 10:15 Welcome 10:15 – 10:30 Short presentation of participants 10:30 – 11:00 Summery of the project – Inge Bernstein 11:00 – 11:30 Technically aspects – Jens Rahbek Nørgaard 11:30 – 12:00 Security perspective in Europe – CUSTODIX 12:00 – 13:00 Lunch 13:00 – 15:30 STANDARDS – discussion & consensus Family information Individual information Laboratory analysis information Surgical information 15:30 – 16:00 Coffee break 16:00 – 17:00 Collaboration agreements & Conclusion 19.30 Dinner

  15. Time table

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