Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.
Alena ZablotskayaHilde Van EschKevin J VerstrepenGuy FroyenJoris Robert VermeeschPublished in: BMC medical genomics (2018)
This study demonstrates the power of single molecule sequencing to measure tandem repeat lengths and detect expansions, and suggests that tandem repeat mutations may be a hidden cause of X-linked intellectual disability.