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
Read More »Saphyr Solves Genetic Mysteries, Enables Study of Complex Genetic Diseases, Simplifies Muscular Dystrophy Testing
