An Evaluation Framework for Data Quality Tools

International audienceData Quality is a major stake for large organizations and software companies are proposing increasing numbers of tools focusing on these issues. The scope of these tools is moving from specific applications (deduplication, address normalization etc ...) to a more global perspective integrating all areas of data quality (profiling, rule-detection...). A framework is needed to help managers to choose this type of tool. In this article, we focus on tool-functionalities which aim to measure the quality of data(bases). We explain what one can expect of such functionalities in a CRM context, and we propose a general matrix which can be used for the evaluation and comparison of these tools

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to <i>FAM111B </i>mutations

BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. METHODS: Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. RESULTS: Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes. CONCLUSIONS: HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder

AN EVALUATION FRAMEWORK FOR DATA QUALITY TOOLS (Practice Oriented)

Abstract: Data Quality is a major stake for large organizations and software companies are proposing increasing numbers of tools focusing on these issues. The scope of these tools is moving from specific applications (deduplication, address normalization etc …) to a more global perspective integrating all areas of data quality (profiling, rule-detection…). A framework is needed to help managers to choose this type of tool. In this article, we focus on tool-functionalities which aim to measure the quality of data(bases). We explain what one can expect of such functionalities in a CRM context, and we propose a general matrix which can be used for the evaluation and comparison of these tools

Gestion de la qualité des données ouvertes liées - État des lieux et perspectives

National audienceSous l’impulsion de l’apparition de nouvelles technologies permettant la publication et l’exploitation de données ainsi que de contraintes réglemen- taires imposant à certaines entreprises et institutions d’ouvrir leur données, la publication de données liées est devenue un phénomène en pleine croissance. Cette immense ressource de données offre de grandes possibilités d’exploitation. Cependant, on constate un niveau très disparate de qualité des données publiées, rendant leur utilisation difficile, voir risquée. L’évaluation et la maîtrise de la qualité de ces données deviennent de ce fait un enjeu de premier plan. Dans cet article, nous dressons un état de l’art des approches méthodologiques et techniques de gestion de la qualité des données ouvertes liées proposées dans la littérature. Le périmètre couvert inclut les dimensions et métriques, les frameworks de gestion, les plateformes et outils associés, et enfin les cas d’étude de publication et d’utilisation des données ouvertes liées centrés sur la qualité de celles-ci. En nous fondant sur cet état de l’art, nous exhibons des problèmes ouverts et des perspectives de recherche du domaine