Search results for "ML"
showing 10 items of 1465 documents
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
2005
Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…
Discovering single classes in remote sensing images with active learning
2012
When dealing with supervised target detection, the acquisition of labeled samples is one of the most critical phases: the samples must be yet representative of the class of interest, but must also be found among a vast majority of non-target examples. Moreover, the efficiency of the search is also an issue, since the samples labeled as background are not used by target detectors such as the support vector data description (SVDD). In this work we propose a competitive and effective approach to identify the most relevant training samples for one-class classification based on the use of an active learning strategy. The SVDD classifier is first trained with insufficient target examples. It is t…
Recognition of Falls and Daily Living Activities Using Machine Learning
2018
A robust fall detection system is essential to support the independent living of elderlies. In this context, we develop a machine learning framework for fall detection and daily living activity recognition. Using acceleration data from public databases, we test the performance of two algorithms to classify seven different activities including falls and activities of daily living. We extract new features from the acceleration signal and demonstrate their effect on improving the accuracy and the precision of the classifier. Our analysis reveals that the quadratic support vector machine classifier achieves an overall accuracy of 93.2% and outperforms the artificial neural network algorithm. Re…
Investment Decision Making and Risk
2013
Abstract The aim of the paper is to present how investment decisions are made and what investment risk is, what role it has in the investment decision. The decision itself is a subjective act, but it is based on both subjective and objective factors. Risk is an important component of every investment, thus it is necessary to analyse it as both, the objective component of the investment, and as the subjective factor of the investment decision making.
WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas
2021
Abstract Many hereditary cancer syndromes are associated with an increased risk of small and large intestinal adenocarcinomas. However, conditions bearing a high risk to both adenocarcinomas and neuroendocrine tumors are yet to be described. We studied a family with 16 individuals in four generations affected by a wide spectrum of intestinal tumors, including hyperplastic polyps, adenomas, small intestinal neuroendocrine tumors, and colorectal and small intestinal adenocarcinomas. To assess the genetic susceptibility and understand the novel phenotype, we utilized multiple molecular methods, including whole genome sequencing, RNA sequencing, single cell sequencing, RNA in situ hybridization…
Pituispheres Contain Genetic Variants Characteristic to Pituitary Adenoma Tumor Tissue
2020
The most common type of pituitary neoplasms is benign pituitary adenoma (PA). Clinically significant PAs affect around 0.1% of the population. Currently, there is no established human PA cell culture available and when PA tumor cells are cultured they form two distinct types depending on culturing conditions either free-floating aggregates also known as pituispheres or cells adhering to the surface of cell plates and displaying mesenchymal stem-like properties. The aim of this study was to trace the origin of sphere-forming and adherent pituitary cell cultures and characterize the potential use of these surgery derived cell lines as PA model. We carried out a paired-end exome sequencing of …
Incident colorectal cancer in Lynch syndrome is usually not preceded by compromised quality of colonoscopy
2019
AbstractBackground: Lifetime incidence of colorectal cancer (CRC) especially in carriers of MLH1 and MSH2 pathogenic germline variants in mismatch repair genes is high despite ongoing colonoscopy s...
Mitochondrial D310 mutations in colorectal adenomas: an early but not causative genetic event during colorectal carcinogenesis.
2008
Somatic mutations of the D310 sequence of the mitochondrial DNA are reported in human cancers, including colorectal cancers (CRC). The presence of these mutations at early or late steps of colorectal carcinogenesis is unknown. Their prevalence increased significantly with the number of cytosines in the D310 sequence of the matched normal tissue (D310 polymorphism), suggesting that this polymorphism could be a risk factor for CRC. The aim of this study was (i) to investigate the prevalence of D310 mutations in 64 colorectal adenomas and 36 liver metastases from 15 CRC patients, (ii) to assess the relation between D310 polymorphism and the risk of colorectal adenoma in a case-control study in…
An Investigation of the Roles of Group Identification, Perceived Ability, and Evaluative Conditions in Stereotype Threat Experiences
2019
The Multi-Threat Framework distinguishes six qualitatively distinct stereotype threats. Up to now, few studies have been performed to identify the situational and individual determinants of different stereotype threat experiences. This study investigates the role of group identification, perceived ability, and evaluative conditions (private/public) in six stereotype threat experiences for 261 French Physical Education Students. The results show that the expression level of the different stereotype threats does not vary according to evaluative conditions. In contrast, group identification affects all the forms of stereotype threats, and for three forms of stereotype threats, this effect is …
Multicenter Phase II Study of Lurbinectedin in BRCA-Mutated and Unselected Metastatic Advanced Breast Cancer and Biomarker Assessment Substudy
2018
Purpose This multicenter phase II trial evaluated lurbinectedin (PM01183), a selective inhibitor of active transcription of protein-coding genes, in patients with metastatic breast cancer. A unicenter translational substudy assessed potential mechanisms of lurbinectedin resistance. Patients and Methods Two arms were evaluated according to germline BRCA1/2 status: BRCA1/2 mutated (arm A; n = 54) and unselected ( BRCA1/2 wild-type or unknown status; arm B; n = 35). Lurbinectedin starting dose was a 7-mg flat dose and later, 3.5 mg/m2 in arm A. The primary end point was objective response rate (ORR) per Response Evaluation Criteria in Solid Tumors (RECIST). The translational substudy of resist…