Identification of novel disease genes in NDD/NMD patients
- Identify up to 100 novel disease genes in NDD/NMD patients by WES
- So enable the genetic diagnosis of up to 80% of NDD/NMD patients
- Define effectiveness, turn-around time and costs of WES in an early diagnostic setting
- Identify potential modifiers across NDD/NMD groups by analysing all WES datasets
- Integrate genetic data into clinics, registries and biobanks