Search results for "ML"
showing 10 items of 1465 documents
Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength
2022
Lynch syndrome (LS) is an inherited genetic condition associated with increased predisposition to colorectal cancer (CRC) and other tumors and is caused by germline mutations in Mismatch Repair (MMR) or EPCAM genes. The identification of LS carriers is currently based on germline testing of subjects with MMR-deficient (dMMR) tumors or fulfilling clinical criteria, but the most efficient strategies to select patients who should be offered genetic testing are yet not well defined. In order to assess the most suitable selection mode to identify LS-related CRC patients, we retrospectively collected and analyzed all clinical and molecular information of 854 CRC patients, recruited from 2013 to 2…
Abstract LB-287: Identification of patients at risk for tumor predisposition syndromes based on the evaluation of sporadic cancer exome sequencing da…
2017
Abstract The MASTER (Molecularly Aided Stratification for Tumor Eradication Research) Program of the NCT (National Center for Tumor Diseases) Heidelberg and the DKTK (German Cancer Consortium) is situated at the interface of cancer genomics and clinical oncology to provide whole exome/genome and transcriptome sequencing to selected patients with unmet medical need, and to evaluate the utility of such an approach regarding molecular stratification and individualized, biology-guided treatment. The program has enabled implementation of a shared, DKTK-wide workflow for rapid-turnaround clinical sequencing, comprising all steps from sample processing to reporting of results by a dedicated molecu…
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.
2006
Contains fulltext : 35205.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder, starting in early childhood and persisting into adulthood in the majority of cases. Family and twin studies have demonstrated the importance of genetic factors and candidate gene association studies have identified several loci that exert small but significant effects on ADHD. To provide further clarification of reported associations and identify novel associated genes, we examined 1,038 single-nucleotide polymorphisms (SNPs) spanning 51 candidate genes involved in the regulation of neurotransmitter pathways, particularly dopamine, nor…
Genome-wide association scan of attention deficit hyperactivity disorder
2008
Contains fulltext : 70191.pdf (Publisher’s version ) (Closed access) Results of behavioral genetic and molecular genetic studies have converged to suggest that genes substantially contribute to the development of attention deficit/hyperactivity disorder (ADHD), a common disorder with an onset in childhood. Yet, despite numerous linkage and candidate gene studies, strongly consistent and replicable association has eluded detection. To search for ADHD susceptibility genes, we genotyped approximately 600,000 SNPs in 958 ADHD affected family trios. After cleaning the data, we analyzed 438,784 SNPs in 2,803 individuals comprising 909 complete trios using ADHD diagnosis as phenotype. We present t…
The CO-releasing molecule CORM-3 protects against articular degradation in the K/BxN serum transfer arthritis model.
2010
Contains fulltext : 89015.pdf (Publisher’s version ) (Closed access) Carbon monoxide-releasing molecules can counteract inflammatory responses. The aim of this study was to investigate whether tricarbonylchloro(glycinate)ruthenium (II) (CORM-3) is able to control the effector phase of experimental arthritis. Arthritis was induced in C57Black-6 mice by an intraperitoneal injection of serum from arthritic K/BxN mice. CORM-3 was administered intraperitoneally at 10 mg/kg/day (5 mg/kg twice a day) from days 0 to 10 and animals were sacrificed on day 11. Serum levels of osteocalcin and prostanoids were measured by enzyme-linked immunosorbent assay and radioimmunoassay. Gene expression was determ…
Reversible stress-induced lipid body formation in fast twitch rat myofibers
2012
We analyzed the existence of lipid bodies (LBs) in the fast twitch rat flexor digitorum brevis (FDB) myofibers and found that these structures were scarce. However, isolation procedure of the myofibers, heath shock, viral infection or the glycosylation inhibitor tunicamycin induced formation of the LBs, which were stationary structures flanking Z lines. We next infected FDB myofibers with recombinant Semliki Forest virus expressing caveolin 3-yellow fluorescent protein (cav3-YFP) since this chimeric protein was targeted to the LBs facilitating their further analysis. Photobleaching experiments showed that the LBs recovered cav 3-YFP extremely slowly, indicating that they were not continuous…
Endringskapasitet – en nøkkel for å lykkes med gevinstrealisering i spesialisthelsetjenesten? : En studie av hvordan mellomledere opplever at endring…
2018
Masteroppgave i helse- og sosialinformatikk HSI500 - Universitetet i Agder 2018 Background: If an organisation is to reap the potential benefits of new technology, it must modify its work processes. However, the specialist health service appears to be experiencing significant challenges because it is constantly under pressure to change and improve its efficiency. This can weaken its capacity for change and, at worst, lead to long-term reductions in productivity and efficiency. Purpose: The purpose of this study is to examine how middle managers in the specialist health service feel they can influence developments in change capacity. The aim is to contribute to an awareness of the importance…
Effectiveness of local feature selection in ensemble learning for prediction of antimicrobial resistance
2008
In the real world concepts are often not stable but change over time. A typical example of this in the biomedical context is antibiotic resistance, where pathogen sensitivity may change over time as pathogen strains develop resistance to antibiotics that were previously effective. This problem, known as concept drift (CD), complicates the task of learning a robust model. Different ensemble learning (EL) approaches (that instead of learning a single classifier try to learn and maintain a set of classifiers over time) have been shown to perform reasonably well in the presence of concept drift. In this paper we study how much local feature selection (FS) can improve ensemble performance for da…
Modeling Multi-label Recurrence in Data Streams
2019
Most of the existing data stream algorithms assume a single label as the target variable. However, in many applications, each observation is assigned to several labels with latent dependencies among them, which their target function may change over time. Classification of such non-stationary multi-label streaming data with the consideration of dependencies among labels and potential drifts is a challenging task. The few existing studies mostly cope with drifts implicitly, and all learn models on the original label space, which requires a lot of time and memory. None of them consider recurrent drifts in multi-label streams and particularly drifts and recurrences visible in a latent label spa…
Novel Version of PageRank, CheiRank and 2DRank for Wikipedia in Multilingual Network Using Social Impact
2020
International audience; Nowadays, information describing navigation behaviour of internet users are used in several fields, e-commerce, economy, sociology and data science. Such information can be extracted from different knowledge bases, including business-oriented ones. In this paper, we propose a new model for the PageRank, CheiRank and 2DRank algorithm based on the use of clickstream and pageviews data in the google matrix construction. We used data from Wikipedia and analysed links between over 20 million articles from 11 language editions. We extracted over 1.4 billion source-destination pairs of articles from SQL dumps and more than 700 million pairs from XML dumps. Additionally, we …