Genotype-phenotype databases

Genotype-phenotype databases play an important role in the interpretation of genetic analyses. In these databases, disease-causing gene variants are systematically recorded and stored with the corresponding medical data and the respective evidence of their disease relevance.

Additional information:

Internet platform of the International Rare Disease Research Consortium. Online Version 

Brookes, A. J. / Robinson, P. N. (2015): Human genotype–phenotype databases: aims, challenges and opportunities. In: Nature Reviews Genetics 16 (12), 702–715. doi: 10.1038/nrg3932 Online Version 

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