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WP 2 Mutation analysis, quality-control and genetic testing

This project by Jens Mogensen from the Department of Cardiology at Skejby University Hospital focuses on developing guidelines for interpreting sequence variations in affected individuals. It aims to establish a mutual database of genetic mutations associated with diseases and improve genotyping methods while ensuring quality control. The project includes genotyping 800 families with dilated cardiomyopathy (DCM) to gain insights into over 40 recognized disease genes, incorporating robust bioinformatics solutions in collaboration with Beijing Genomics Institute (BGI).

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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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