Search results for "DATABASES"
showing 10 items of 937 documents
Text mining and expert curation to develop a database on psychiatric diseases and their genes
2017
Psychiatric disorders constitute one of the main causes of disability worldwide. During the past years, considerable research has been conducted on the genetic architecture of such diseases, although little understanding of their etiology has been achieved. The difficulty to access up-to-date, relevant genotype-phenotype information has hampered the application of this wealth of knowledge to translational research and clinical practice in order to improve diagnosis and treatment of psychiatric patients. PsyGeNET (http://www.psygenet.org/) has been developed with the aim of supporting research on the genetic architecture of psychiatric diseases, by providing integrated and structured accessi…
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of…
2017
International audience; PurposeCongenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular diagnosis after a long and stressful diagnostic “odyssey.” Solo clinical whole-exome sequencing (WES) was applied in our genetics center to improve diagnosis in patients with CA/ID.MethodsThis retrospective study examined 416 consecutive tests performed over 3 years to demonstrate the effectiveness of periodically reanalyzing WES data. The raw data from each nonpositive test was reanalyzed at 12 months with the most recent pipeline and in the light of new data in the literature. The results of the reanalysis for …
EV-TRACK: transparent reporting and centralizing knowledge in extracellular vesicle research
2017
We argue that the field of extracellular vesicle (EV) biology needs more transparent reporting to facilitate interpretation and replication of experiments. To achieve this, we describe EV-TRACK, a crowdsourcing knowledgebase (http://evtrack.org) that centralizes EV biology and methodology with the goal of stimulating authors, reviewers, editors and funders to put experimental guidelines into practice.
Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal
2016
AbstractThe ability to taste phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) is a polymorphic trait mediated by the TAS2R38 bitter taste receptor gene. It has long been hypothesized that global genetic diversity at this locus evolved under pervasive pressures from balancing natural selection. However, recent high-resolution population genetic studies of TAS2Rs suggest that demographic events have played a critical role in the evolution of these genes. We here utilized the largest TAS2R38 database yet analyzed, consisting of 5,589 individuals from 105 populations, to examine natural selection, haplotype frequencies and linkage disequilibrium to estimate the effects of both selectio…
Producción y difusión digitales de las humanidades no vanguardistas en el siglo XX: el ejemplo de la filología catalana medieval
2014
Aquest article ofereix un panorama històric dels formats digitals emprats al segle XX en un petit camp de les Humanitats: la filologia catalana medieval, com a exemple de moltes altres àrees de recerca similars, no avantguardistes, i centrades en estudis textuals. S'hi mostra que la gestió textual i de vocabulari, així com les bades de dades lèxiques i bibliogràfiques, van constituir els seus primers projectes. L'article conclou amb una brevíssima valoració dels desafiaments digitals en el futur immediat, especialment en eines de publicació: pdf front a epub, i l'accelerat procés de compartir la recerca més recent a través de les xarxes socials d'investigadors. S'hi defén la via de la cultu…
High spin polarization in Co2CrAl–Cr superlattice
2009
The electronic structure, magnetic properties and interface effects in Co2CrAl?Cr superstructures have been investigated by the use of first principle calculations. The results show that at the interface, a large magnetic moment and a high spin polarization can be induced by a strong ferromagnetic exchange interaction at the Cr?Co interface. However, at the CrAl?Cr interface, both the magnetic moment and the spin polarization of the Cr atoms are decreased due to a Cr?Cr antiferromagnetic interaction. It can also be found that the interface effect is only a short range effect. So, high spin polarization in Co2CrAl?Cr superlattice can be obtained. Based on this theoretical analysis, a large g…
La transformación de DICAT: el potencial de la visualización digital de redes para el teatro clásico español
2021
This paper analyses and proposes the steps to transform Diccionario biográfico de actores del teatro clásico español DICAT in order to be federated on ASODAT system of databases. We intend to assess whether or not the visualization of nets may be a useful and operational tool to analysing the biographical and professional information established between actors and actress of early modern Spanish theater, and to show patterns of social relation. Este artículo analiza y propone los pasos para transformar el Diccionario biográfico de actores del teatro clásico español DICAT para que pueda ser federado en el sistema de bases de datos ASODAT. Se pretende evaluar si la visualización de redes pued…
Thyroid neoplasms: surgical and cyto-histopathological connections on a six year cases study
2018
This study aims to evaluate the percentage of cyto-histologic correlation in patients with a thyroid disease documented through clinical-instrumental, cytological (FNAB), histological and surgical examinations. The purpose of this study is also to determine the percentage of disease incidence and evaluating any surgical indication in relation to biological behavior (benign, malignant or indeterminate lesions, occult carcinomas), sex, and age.Almost all of thyroid neoplasms is manifested through thyroid nodule. Therefore, clinical evidence of the thyroid nodule analysis is primarily related to the need to exclude malignant pathology or carcinoma of the thyroid, present in 4-6.5% of cases.The…
Total energy expenditure is repeatable in adults but not associated with short-term changes in body composition
2022
Low total energy expenditure (TEE, MJ/d) has been a hypothesized risk factor for weight gain, but repeatability of TEE, a critical variable in longitudinal studies of energy balance, is understudied. We examine repeated doubly labeled water (DLW) measurements of TEE in 348 adults and 47 children from the IAEA DLW Database (mean ± SD time interval: 1.9 ± 2.9 y) to assess repeatability of TEE, and to examine if TEE adjusted for age, sex, fat-free mass, and fat mass is associated with changes in weight or body composition. Here, we report that repeatability of TEE is high for adults, but not children. Bivariate Bayesian mixed models show no among or within-individual correlation between body c…
The economic impact of rectal cancer: A population-based study in Italy list of authors
2021
Costs of cancer care are increasing worldwide, and sustainability of cancer burden is critical. In this study, the economic impact of rectal cancer on the Italian healthcare system, measured as public healthcare expenditure related to investigation and treatment of rectal cancer patients is estimated. A cross-sectional cohort of 9358 rectal cancer patients is linked, on an individual basis, to claims associated to rectal cancer diagnosis and treatments. Costs refer mainly to years 2010&ndash