Downstream bioinformatic analyses will include functional and systems analyses of candidate genes, as well as integration of data from different technologies, public databases and local variant database.
Downstream molecular biology analyses will include variant validation using Sanger sequencing, as well as segregation analyses using restriction enzymes and/or Sanger sequencing.
For further elucidation of disease pathways and mechanisms, consultation will be offered regarding recommended studies in model animals (e.g. Drosophila, Zebrafish, C. elegans and mice). Such studies may be subsequently carried out in collaboration with the Center's affiliated researches.
In addition, consultation will be offered regarding first steps in drug development based on novel drug targets identified in the genetic analyses.
