Open access
Sep 2026
An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders.
Functional genomics enables timely diagnosis for individuals with suspected monogenic disorders by evaluating the functional impact of variants of uncertain significance, offering an advantage over reanalyzing genomic data at 18 months.
Francisco Santos Gonzalez, Ellenore M. Martin, Madeleine Harris et al.
· Genetics in Medicine · 0 citations