Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR
Background: The occurrence of mosaicism in hemophilia A (HA) has been investigated in several studies using different detection methods.Objectives: To characterize and compare the ability of AmpliSeq/Ion Torrent sequencing and droplet digital polymerase chain reaction (ddPCR) for mosaic detection in HA.Methods: Ion Torrent sequencing and ddPCR were used to analyze 20 healthy males and 16 mothers o
