A machine learning pipeline for discriminant pathways identification

Motivation: Identifying the molecular pathways more prone to disruption during a pathological process is a key task in network medicine and, more in general, in systems biology. Results: In this work we propose a pipeline that couples a machine learning solution for molecular profiling with a recent network comparison method. The pipeline can identify changes occurring between specific sub-modules of networks built in a case-control biomarker study, discriminating key groups of genes whose interactions are modified by an underlying condition. The proposal is independent from the classification algorithm used. Three applications on genomewide data are presented regarding children susceptibility to air pollution and two neurodegenerative diseases: Parkinson's and Alzheimer's. Availability: Details about the software used for the experiments discussed in this paper are provided in the Appendix

Case of Multiple Sulfatase Deficiency and Ocular Albinism: A Diagnostic Odyssey

Background: Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of lysosomal metabolism. The clinical phenotypic spectrum encompasses overlapping features of variable severity and is suggestive of individual single sulfatase deficiencies (i.e., metachromatic leukodystrophy, mucopolysaccharidosis, and X-linked ichthyosis). Case Report: We describe a 3-year-old male with severe hypotonia, developmental regression and progressive neurodegeneration, coarse facial features, nystagmus (from ocular albinism), and dysmyelinating motor sensory neuropathy. Ethics approval was obtained from the Western University Ontario. Results: Extensive investigative work-up identified deficiencies of multiple sulfatases: heparan sulfate sulfamidase: 6.5 nmoles/mg/protein/17 hour (reference 25.0-75.0), iduronate-2-sulfate sulfatase: 9 nmol/mg/protein/4 hour (reference 31-110), and arylsulfatase A: 3.8 nmoles/hr/mg protein (reference 22-50). The identification of compound heterozygous pathogenic mutations in the SUMF1 gene c.836 C\u3eT (p.A279V) and c.1045C\u3eT (p.R349W) confirmed the diagnosis of MSD. Conclusion: The complex clinical manifestations of MSD and the unrelated coexistence of ocular albinism as in our case can delay diagnosis. Genetic counselling should be provided to all affected families

The First Neptune Analog or Super-Earth with Neptune-like Orbit: MOA-2013-BLG-605Lb

We present the discovery of the first Neptune analog exoplanet or super-Earth with Neptune-like orbit, MOA-2013-BLG-605Lb. This planet has a mass similar to that of Neptune or a super-Earth and it orbits at $9\sim 14$ times the expected position of the snow-line, $a_{\rm snow}$, which is similar to Neptune's separation of $11\,a_{\rm snow}$ from the Sun. The planet/host-star mass ratio is $q=(3.6\pm0.7)\times 10^{-4}$ and the projected separation normalized by the Einstein radius is $s=2.39\pm0.05$. There are three degenerate physical solutions and two of these are due to a new type of degeneracy in the microlensing parallax parameters, which we designate "the wide degeneracy". The three models have (i) a Neptune-mass planet with a mass of $M_{\rm p}=21_{-7}^{+6} M_{Earth}$ orbiting a low-mass M-dwarf with a mass of $M_{\rm h}=0.19_{-0.06}^{+0.05} M_\odot$, (ii) a mini-Neptune with $M_{\rm p}= 7.9_{-1.2}^{+1.8} M_{Earth}$ orbiting a brown dwarf host with $M_{\rm h}=0.068_{-0.011}^{+0.019} M_\odot$ and (iii) a super-Earth with $M_{\rm p}= 3.2_{-0.3}^{+0.5} M_{Earth}$ orbiting a low-mass brown dwarf host with $M_{\rm h}=0.025_{-0.004}^{+0.005} M_\odot$ which is slightly favored. The 3-D planet-host separations are 4.6$_{-1.2}^{+4.7}$ AU, 2.1$_{-0.2}^{+1.0}$ AU and 0.94$_{-0.02}^{+0.67}$ AU, which are $8.9_{-1.4}^{+10.5}$, $12_{-1}^{+7}$ or $14_{-1}^{+11}$ times larger than $a_{\rm snow}$ for these models, respectively. The Keck AO observation confirm that the lens is faint. This discovery suggests that low-mass planets with Neptune-like orbit are common. So processes similar to the one that formed Neptune in our own Solar System or cold super-Earth may be common in other solar systems.Comment: 54 pages, 10 figures, 13 tables, Accepted for publication in the Ap

SELECTED SINGLE FACE TRACKING IN TECHNICALLY CHALLENGING DIFFERENT BACKGROUND VIDEO SEQUENCES USING COMBINED FEATURES

The commonly identified limitations of video face trackers are, the inability to track human face in different background video sequences with the conditions like occlusion, low quality, abrupt motions and failing to track single face when it contain multiple faces. In this paper, we propose a novel algorithm to track human face in different background video sequences with the conditions listed above. The proposed algorithm describes an improved KLT tracker. We collect Eigen, FAST as well as HOG features and combine them together. The combined features are given to the tracker to track the face. The algorithm being proposed is tested on challenging datasets videos and measured for performance using the standard metrics