46 research outputs found

    Provenance-Aware Sensor Data Storage

    Get PDF
    Sensor network data has both historical and realtime value. Making historical sensor data useful, in particular, requires storage, naming, and indexing. Sensor data presents new challenges in these areas. Such data is location-specific but also distributed; it is collected in a particular physical location and may be most useful there, but it has additional value when combined with other sensor data collections in a larger distributed system. Thus, arranging location-sensitive peer-to-peer storage is one challenge. Sensor data sets do not have obvious names, so naming them in a globally useful fashion is another challenge. The last challenge arises from the need to index these sensor data sets to make them searchable. The key to sensor data identity is provenance, the full history or lineage of the data. We show how provenance addresses the naming and indexing issues and then present a research agenda for constructing distributed, indexed repositories of sensor data.Engineering and Applied Science

    Provenance-Aware Sensor Data Storage

    Get PDF
    Sensor network data has both historical and realtime value. Making historical sensor data useful, in particular, requires storage, naming, and indexing. Sensor data presents new challenges in these areas. Such data is location-specific but also distributed; it is collected in a particular physical location and may be most useful there, but it has additional value when combined with other sensor data collections in a larger distributed system. Thus, arranging location-sensitive peer-to-peer storage is one challenge. Sensor data sets do not have obvious names, so naming them in a globally useful fashion is another challenge. The last challenge arises from the need to index these sensor data sets to make them searchable. The key to sensor data identity is provenance, the full history or lineage of the data. We show how provenance addresses the naming and indexing issues and then present a research agenda for constructing distributed, indexed repositories of sensor data.Engineering and Applied Science

    Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

    Get PDF
    Rare single-gene disorders cause chronic disease. However, half of the 6,000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of chronic kidney disease (CKD) in children but are notoriously difficult to diagnose. Whole exome resequencing facilitates identification of recessive disease genes. However, its utility is impeded by the large number of genetic variants detected. We here overcome this limitation by combining homozygosity mapping with whole exome resequencing in 10 sib pairs with a nephronophthisis-related ciliopathy, which represents the most frequent genetic cause of CKD in the first three decades of life. In 7 of 10 sib-ships with a histologic or ultrasonographic diagnosis of nephronophthisis-related ciliopathy we detect the causative gene. In six sib-ships we identify mutations of known nephronophthisis-related ciliopathy genes, while in two additional sib-ships we found mutations in the known CKD-causing genes SLC4A1 and AGXT as phenocopies of nephronophthisis-related ciliopathy. Thus whole exome resequencing establishes an efficient, non-invasive approach towards early detection and causation-based diagnosis of rare kidney diseases. This approach can be extended to other rare recessive disorders, thereby providing accurate diagnosis and facilitating the study of disease mechanisms

    FAT1 mutations cause a glomerulotubular nephropathy

    Get PDF
    Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss of FAT1 results in decreased cell adhesion and migration in fibroblasts and podocytes and the decreased migration is partially reversed by a RAC1/CDC42 activator. Podocyte-specific deletion of Fat1 in mice induces abnormal glomerular filtration barrier development, leading to podocyte foot process effacement. Knockdown of Fat1 in renal tubular cells reduces migration, decreases active RAC1 and CDC42, and induces defects in lumen formation. Knockdown of fat1 in zebrafish causes pronephric cysts, which is partially rescued by RAC1/CDC42 activators, confirming a role of the two small GTPases in the pathogenesis. These findings provide new insights into the pathogenesis of SRNS and tubulopathy, linking FAT1 and RAC1/CDC42 to podocyte and tubular cell function
    corecore