What types of research can I conduct using GMDB?

With the phenotype comparison tool in GMDB (My Data → My Research), you can conduct research projects on self-defined cohorts that focus on analyzing phenotypic similarities and differences across patient cohorts.

• Lumping: Investigate whether cases with different genetic causes share a common clinical presentation. For example, comparing KMT2D and KDM6A cases.
• Splitting: Investigate whether patients with variants in the same gene actually represent distinct clinical entities. For example, comparing the C-terminal and N-terminal truncations of MN1.

You can find a demonstration of these analyses in Mak, Klinkhammer, Choufani et al. (2025; PMID: 40280028)