Abstract Body

Urogenital schistosomiasis is caused by Schistosoma haematobium and is one of the most neglected tropical diseases worldwide. It is characterised by granulomata and fibrosis in urogenital tissues, and increased susceptibility to HIV/AIDS and cancer of the bladder. To break the transmission of disease, sound knowledge and understanding of the biology of S. haematobium is required. Hybridisation/introgression events and molecular variation among members of the S. haematobium-group might effect important biological and/or disease traits as well as the morbidity of disease and the effectiveness of control programs including mass drug administration. Here we report the first chromosome-contiguous genome for a well-defined laboratory line of this blood fluke. An exploration of this genome using transcriptomic data for all key developmental stages allowed us to refine gene models (including non-coding elements) and annotations, discover ‘new’ genes and transcription profiles for these stages, likely linked to development and/or pathogenesis. Molecular variation among S. haematobium worms revealed unique genomic ‘signatures’ that matched species other than S. haematobium, indicating the occurrence of introgression events. The reference genome and the findings from this study underpin future functional genomic and molecular investigations of schistosomes and accelerate systematic, large-scale population genomics investigations, with a focus on control of schistosomiasis.