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Scientific topic
- Whole genomes
- Exomes1
- Genome annotation1
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- Genomics England | PanelApp1
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- Biocuration1
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- human disease1
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- clinicians and informaticians interested in cancer genetics1
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- Ellen McDonagh1
- Rebecca Foulger1
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- knowledgebase1
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Related resource
- Genomics England PanelApp
- Associated Training Datasets45
- Associated Workflows41
- 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
- REPET image Docker1
- 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
- VEIS webinar: The essentials of DUO codes | Presentation1
- VEIS webinar: The essentials of DUO codes | Video1
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