Clinical site teams | Source of candidate genes/variants; provide analysis of high-quality sequencing data in a clinical context and patient genetic and phenotypic findings |
Bioinformatics team | Provides initial quality control based on human genetics, and integrates efforts from each Model Organism Core to understand evolutionarily relationships (e.g. homology and conserved synteny), known functions of candidate genes, protein structure and function, integration of information from model organism databases, availability of reagents, and previously generated knowledge of genes in models |
Worm core team | Expertise in applying C. elegans genetics to the specific genes and variants from undiagnosed patients |
Fly core team | Expertise in using Drosophila technology for the specific genes and variants from undiagnosed patients |
Fish core team | Expertise in utilizing zebrafish genetics for the specific genes and variants from undiagnosed patients |