Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry

2023 in the European Journal of Human Genetics

“…Dixon et al report the use of nanopore sequencing to describe the heterogeneity of structural variants in breast cancer susceptibility genes [17]. Rayani et al compared a range of in silico tools to aid with diagnosis of splice site variants in cardiogenetic disease [18]. Francis and colleagues report that saliva samples can have greater diagnostic yield for detection of mosaic copy number variants than blood [19].…”