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WP 2 Mutation analysis, quality-control and genetic testing

WP 2 Mutation analysis, quality-control and genetic testing. Jens Mogensen Department of Cardiology Skejby University Hospital. WP 2, commitments. Develop guidelines for interpretation of sequence variations identified in affected individuals

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WP 2 Mutation analysis, quality-control and genetic testing

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  1. WP 2Mutation analysis, quality-control and genetic testing Jens Mogensen Department of Cardiology Skejby University Hospital

  2. WP 2, commitments • Develop guidelines for interpretation of sequence variations identified in affected individuals • Create a mutual database consisting of sequence variations and disease associated mutations (WP10) • Compare and validate the quality of various methods and equipment for genotyping within the Consortium

  3. WP 2, commitments • Develop low cost genotyping • Coordinate genotyping within the Consortium to ensure investigation of affected individuals in all recognised disease genes and generate a web-based network coordinating genotyping • Genotype a consecutive cohort of 800 DCM families in all recognised disease genes

  4. DCM genes > 40!!

  5. Genetic diagnosis

  6. Genetic diagnosis

  7. Beijing Genomics Institute, BGI • 1000 patients • 50 genes • 100-150$/sample (100-150.000$) • 6 months • Bioinformatics included

  8. Beijing Genomics Institute, BGI • Which genes? • Patient selection? • Quality-control? • Sample and DNA-management? • B-samples, control sequencing? • Genotype management? • Clinical data?

  9. Beijing Genomics Institute, BGI • Publication-strategy? • Authorships? • Costs? • Legal aspects? • Intellectual property?

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