Literature - jandrewrfarrell/RUFUS GitHub Wiki RUFUS Papers: Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia. Clinical applications of sequencing take center stage Analysis of archived residual newborn screening blood spots after whole genome amplification Expanding the horizons of next generation sequencing with RUFUS