Development and implementation of disease group overlapping NGS-based diagnostic panels
- Develop a recommended diagnostic sequence for each of the diseases
- Design NDD gene panels (103 genes), NMD (159 genes) and SMA-LMND (38 genes) and algorithms. New genes identified in WP2 or subsequently published, will be included in an updated version
- Sequence 100 pre-screened patients in each disease group with unknown genetic cause using gene panels (targeted NGS)
- Recommend families for further WES mutation screening by WP5, for which no disease causing mutation has been identified using the targeted approach
- Define the limitations of the technology for the respective approach for each gene
- Develop a bioinformatics strategy for routine diagnostics
- Develop recommendations and guidelines for genetic testing
- Expand the genotype/phenotype correlations for all identified mutation carriers
- Report variants as potential modifier variants
- Compare cost, validity and efficacy between WES, WGS and a disease panel approach
- Integrate genetic data into clinics, registries and public database (in collaboration with RD-Connect)
