Exome sequencing is revolutionizing Mendelian disease gene identification. disease has received a increase in the last year or two by the launch of new technology that enable the sequencing of DNA at a higher throughput and at lower costs than previously feasible [4]. Although traditional gene mapping approaches (such as for example karyotyping [5], linkage… Continue reading Exome sequencing is revolutionizing Mendelian disease gene identification. disease has received