Author(s): Rolfs, Prof. Arndt, MD, Jamra, Rami Abou, MD, Bertoli-Avella, Aida M., MD, Trujillano, Daniel, PhD, Oprea, Gabriela-Elena, PhD, Schmitz, Yvonne, PhD
In this publication we introduce a comprehensive and global genotype–phenotype database focusing on rare diseases. Read more!
"The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here, we introduce a comprehensive and global genotype–phenotype database focusing on rare diseases."
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