Search results for "Identification"
showing 10 items of 1600 documents
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…
2016
International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…
Treatment of advanced gastroenteropancreatic neuroendocrine neoplasia, are we on the way to personalised medicine?
2021
Gastroenteropancreatic neuroendocrine neoplasia (GEPNEN) comprises clinically as well as prognostically diverse tumour entities often diagnosed at late stage. Current classification provides a uniform terminology and a Ki67-based grading system, thereby facilitating management. Advances in the study of genomic and epigenetic landscapes have amplified knowledge of tumour biology and enhanced identification of prognostic and potentially predictive treatment subgroups. Translation of this genomic and mechanistic biology into advanced GEPNEN management is limited. ‘Targeted’ treatments such as somatostatin analogues, peptide receptor radiotherapy, tyrosine kinase inhibitors and mammalian target…
Application of a portable instrument for rapid and reliable detection of SARS-CoV-2 infection in any environment
2020
Abstract The ongoing outbreak of the novel coronavirus (SARS‐CoV‐2) infection is creating serious challenges for health laboratories that seek to identify viral infections as early as possible, optimally at the earliest appearance of symptom. Indeed, there is urgent need to develop and deploy robust diagnostic methodologies not only to use in health laboratory environments but also directly in places where humans circulate and spread the virus such as airports, trains, boats, and any public aggregation places. The success of a reliable and sensitive asymptomatic diagnosis relies on the identification and measurement of informative biomarkers from human host and virus in a rapid, sensitive, …
Inferring Horizontal Gene Transfer with DarkHorse, Phylomizer, and ETE Toolkits
2020
In this chapter, we describe how to use DarkHorse2.0 to search for xenologs in the genome of the cyanobacterium Synechococcus elongatus PCC 7942. DarkHorse is an implicit phylogenetic method that uses BLAST searches to identify proteins having close homologs of unexpected taxonomic affiliation. Once a set of putative xenologs are identified, Phylomizer is used to reconstruct phylogenetic trees. Phylomizer reproduces all the necessary steps to perform a basic phylogenetic analysis. The combined use of DarkHorse and Phylomizer allows the identification of genes incorporated into a given genome by HGT.
Identification of a new volatile compound in onion (Allium cepa) and leek (Allium porum) : 3,4-dimethyl-2,5-dioxo-2,5-dihydrothiophene
1980
International audience
EHRtemporalVariability: delineating temporal dataset shifts in electronic health records
2020
AbstractBackgroundTemporal variability in healthcare processes or protocols is intrinsic to medicine. Such variability can potentially introduce dataset shifts, a data quality issue when reusing electronic health records (EHRs) for secondary purposes. Temporal dataset shifts can present as trends, abrupt or seasonal changes in the statistical distributions of data over time, being particularly complex to address in multi-modal and highly coded data. These changes, if not delineated, can harm population and data-driven research, such as machine learning. Given that biomedical research repositories are increasingly being populated with large historical data from EHRs, there is a need for spec…
Recognising mitigation: Three tests for its identification
2020
Abstract Linguistic mitigation is a pragmatic phenomenon that has been profusely treated in the literature, and yet there are few studies dedicated exclusively to offering methodological criteria for its recognition and analysis (but see Albelda, 2010 and Albelda et al., 2014). Consequently, the researcher must infer the methods for its recognition through problems arising during the analysis or through the examples and reflections offered by the authors who have addressed the issue. The purpose of this article is twofold. Firstly, to present some of the main keys for the recognition of mitigation presented by the bibliography, such as the catalogues of mitigation devices, the context, the …
Momentary emotion identification in female adolescents with and without anorexia nervosa.
2017
Individuals with anorexia nervosa (AN) often report difficulties in identifying emotions, which have been mostly studied as an alexithymia trait. In a controlled two-day ecological momentary assessment, we studied the influence of time of day and aversive tension on self-reported momentary emotion identification. Analysis on an aggregated level revealed a significant lower mean emotion identification in the AN group. In a mixed model analysis, the AN group showed lower emotion identification than the control group (HC). Both a general and a group effect of time of day were found, indicating that emotion identification improved during the day in HC, whereas a negligible decrease of the emoti…
The relationship of number of sexual partners with personality traits, age, gender and sexual identification
2020
Although personality has been tested as a predictor of sexual behaviours, little is known about the contribution of personality to the number of sexual partners. This study aimed to examine the mod...
What represents a face? A computational approach for the integration of physiological and psychological data.
1997
Empirical studies of face recognition suggest that faces might be stored in memory by means of a few canonical representations. The nature of these canonical representations is, however, unclear. Although psychological data show a three-quarter-view advantage, physiological studies suggest profile and frontal views are stored in memory. A computational approach to reconcile these findings is proposed. The pattern of results obtained when different views, or combinations of views, are used as the internal representation of a two-stage identification network consisting of an autoassociative memory followed by a radial-basis-function network are compared. Results show that (i) a frontal and a…