Beyond the exome: Utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

Long-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible by short-read WGS. However, its utility in autosomal recessive Mendelian diseases is largely unknown. Methods In a cohort of 34 families in which the suspected autosomal recessive diseases remained undiagnosed by exome sequencing, lrWGS was performed on the Pacifc Bioscience Sequel IIe platform.