-
Saphyr can measure large expansions of disease-causing genomic repeats, impossible with other modern techniques, enabling study of a broad range of currently inaccessible genetic diseases
-
Genetic disease cases undiagnosed using existing methods were solved by optical genome mapping
-
Assays developed on Saphyr by University of Iowa and KU Leuven for FSHD muscular dystrophy testing provide unambiguous results in half the time, for half the cost of current standard
-
Bambino Gesù Hospital in Rome,…
Source link
