Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.This is the author accepted manuscript. The final version is available from Nature Publishing Group via http://dx.doi.org/10.1038/ng.352

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P = 9.2 x 10(-20)), ER-negative BC (P = 1.1 x 10(-13)), BRCA1-associated BC (P = 7.7 x 10(-16)) and triple negative BC (P-diff = 2 x 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P = 2 x 10(-3)) and ABHD8 (PPeer reviewe

Handshape Recognition Using Skeletal Data

In this paper, a method of handshapes recognition based on skeletal data is described. A new feature vector is proposed. It encodes the relative differences between vectors associated with the pointing directions of the particular fingers and the palm normal. Different classifiers are tested on the demanding dataset, containing 48 handshapes performed 500 times by five users. Two different sensor configurations and significant variation in the hand rotation are considered. The late fusion at the decision level of individual models, as well as a comparative study carried out on a publicly available dataset, are also included

Recognition of Signed Expressions in an Experimental System Supporting Deaf Clients in the City Office

The paper addresses the recognition of dynamic Polish Sign Language expressions in an experimental system supporting deaf people in an office when applying for an ID card. A method of processing a continuous stream of RGB-D data and a feature vector are proposed. The classification is carried out using the k-nearest neighbors algorithm with dynamic time warping, hidden Markov models, and bidirectional long short-term memory. The leave-one-subject-out protocol is used for the dataset containing 121 Polish Sign Language sentences performed five times by four deaf people. A data augmentation method is also proposed and tested. Preliminary observations and conclusions from the use of the system in a laboratory, as well as in real conditions with an experimental installation in the Office of Civil Affairs are given

Data Augmentation with Suboptimal Warping for Time-Series Classification

In this paper, a novel data augmentation method for time-series classification is proposed. In the introduced method, a new time-series is obtained in warped space between suboptimally aligned input examples of different lengths. Specifically, the alignment is carried out constraining the warping path and reducing its flexibility. It is shown that the resultant synthetic time-series can form new class boundaries and enrich the training dataset. In this work, the comparative evaluation of the proposed augmentation method against related techniques on representative multivariate time-series datasets is presented. The performance of methods is examined using the nearest neighbor classifier with the dynamic time warping (NN-DTW), LogDet divergence-based metric learning with triplet constraints (LDMLT), and the recently introduced time-series cluster kernel (NN-TCK). The impact of the augmentation on the classification performance is investigated, taking into account entire datasets and cases with a small number of training examples. The extensive evaluation reveals that the introduced method outperforms related augmentation algorithms in terms of the obtained classification accuracy

Analysis of wind and drifter movement parameters in terms of navigation safety : the example of Szczecin lagoon

Purpose: The article presents a comparative analysis of the drift movement in the water area of Szczecin Lagoon (southern Baltic, Poland) and wind parameters in the examined region for the dry summer season. Design/Methodology/Approach: Experimental tests were conducted to determine the relationship between the drifter movement parameters and wind parameters in Szczecin Lagoon area. A set of surface drifters was designed for the experimental study at the Maritime University of Szczecin. Drifters were custom-made to track surface currents. In situ experiments were performed from the end of June till mid-October 2018. Statistical analysis of directional and linear data allowed to link the directions and speeds of moving drifters with wind parameters recorded in two places, Świnoujscie and Trzebież. Findings: As a result of the conducted research, it was ascertained that the direction and speed of air masses flow are parameters that strongly affect the movement of surface waters of Szczecin Lagoon. A significant correlation was found between the wind direction and the drift direction. The coefficient of surface drift was also specified to determine the relationship between drift speed and wind speed. Originality/value: The presented research is a complete novelty in the area of the Szczecin Lagoon. The results obtained in the study may be beneficial for the maritime administration, which is responsible for the safety of navigation in the studied water area. The analysis can be used for projecting the track of pollutants in water.peer-reviewe

A Vision-Based Method for Determining Aircraft State during Spin Recovery

This article proposes a vision-based method of determining in which of the three states, defined in the spin recovery process, is an aircraft. The correct identification of this state is necessary to make the right decisions during the spin recovery maneuver. The proposed solution employs a keypoints displacements analysis in consecutive frames taken from the on-board camera. The idea of voting on the temporary location of the rotation axis and dominant displacement direction was used. The decision about the state is made based on a proposed set of rules employing the histogram spread measure. To validate the method, experiments on flight simulator videos, recorded at varying altitudes and in different lighting, background, and visibility conditions, were carried out. For the selected conditions, the first flight tests were also performed. Qualitative and quantitative assessments were conducted using a multimedia data annotation tool and the Jaccard index, respectively. The proposed approach could be the basis for creating a solution supporting the pilot in the process of aircraft spin recovery and, in the future, the development of an autonomous method