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- Genomics England PanelApp
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- Beacon v2: a discovery tool for genomic and pheno-clinical data1
- DisGeNET: a discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases1
- GPAP: the RD-Connect Genome-Phenome Analysis Platform for diagnosis and gene discovery in rare disease research1
- Introduction to the EGA and sharing sensitive data1
- Slides | Beacon v2: a discovery tool for genomic and pheno-clinical data1
- Slides | DisGeNET: a discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases1
- Slides | GPAP: the RD-Connect Genome-Phenome Analysis Platform for diagnosis and gene discovery in rare disease research1
- Slides | Introduction to the EGA and sharing sensitive data1
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