Genomics

Dataset Information

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The NIHR BioResource Rare Diseases BRIDGE consortium sequencing projects


ABSTRACT: The NIHR BioResource Rare Diseases BRIDGE consortium is a collaboration between 13 Rare Disease projects that aim to discover the genetic sequence variants underlying unresolved inherited disorders and to improve identification of already identified high penetrance variants. BRIDGE projects cover a variety of rare disease research areas including Cardiovascular, Infection and Immunity and Neuroscience. The consortium aims to sequence 8,000 samples across the different projects by 2017.

PROVIDER: EGAS00001001012 | EGA |

REPOSITORIES: EGA

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