Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies
Funds functional testing of genetic variants linked to congenital anomalies, to separate the ones that matter from the ones that merely appear.
Sequencing has found enormous numbers of genetic variants associated with congenital anomalies, intellectual and developmental disabilities, and inborn errors of metabolism. Association is not causation, and almost none of these variants has been tested.
The notice names the gap plainly: between identifying a sequence variation of potential interest and recognising which variations actually have …
Screening, functional validation and characterisation of genetic variants associated with human congenital anomalies, intellectual and developmental disabilities and inborn errors of metabolism, drawn from public genomic databases and individual efforts, using in-silico tools, animal models, in vitro systems or combined approaches, to distinguish variants with functional effects from those merely associated. Clinical trials are not allowed.
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