Designing, developing and delivering integrated foundations for genomic medicine (360G-Wellcome-200990_A_16_Z)

The overarching aim of this programme is to undertake the scientific research, development and dissemination required for large-scale genomic testing to be integrated into mainstream medicine. The programme involves four key aims: 1\. To provide robust, comprehensive, expert-curated genome-wide information on the association between genes and human disease. This information will be accessible through the Clinical Atlas of the Genome (CATG), an open-access, user-friendly multiplatform interface, designed for the non-specialist. 2\. To develop standardised frameworks and tools for consistent clinical annotation and reporting of gene variation. 3\. To develop integrated approaches that maximally utilise multisource data to deliver the fast, automated, large- scale, high-throughput variant interpretation required for genomic medicine. 4\. To develop and validate flexible, multipurpose analytical processes to maximise the research and clinical utilities of genomic testing. To achieve these aims we have assembled a committed team of experts with the necessary multidisciplinary capabilities and international networks to design, develop, evaluate, iterate, and deliver foundational resources that will enable genomics to be integrated into routine healthcare.