C9orf72 and neurodegenerative disease: SVs have been implicated in many complex diseases including retinitis pigmentosa (MSR1) (Rose et al., 2016), Alzheimer’s (TOMM40) (Lyall et al., 2013), frontotemporal dementia (C9orf72) (DeJesus-Hernandez et al., 2011; Renton et al., 2011), and other neurodegenerative diseases (Beck et al., 2013).