Search results for "COMPUTATION"
showing 10 items of 7362 documents
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
2019
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data, focusing on the mtDNA genome on a large unspecific cohort to increase diagnostic yield. A targeted bioinformatics pipeline assembled mitochondrial genome from ES data to detect pathogenic mtDNA variants in parallel with the "in-house" nuclear exome pipeline. mtDNA data coming from off-target sequences (indirect sequencing) were extracted from the BAM files in 928 individuals with developmental and/or neurological anomalies. The mtDNA variants were filtered out based on database information, cohort …
NDST1 missense mutations in autosomal recessive intellectual disability.
2014
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …
Linguistic Bias Modulates Interpretation of Speech via Neural Delta-Band Oscillations.
2017
Language comprehension requires that single words be grouped into syntactic phrases, as words in sentences are too many to memorize individually. In speech, acoustic and syntactic grouping patterns mostly align. However, when ambiguous sentences allow for alternative grouping patterns, comprehenders may form phrases that contradict speech prosody. While delta-band oscillations are known to track prosody, we hypothesized that linguistic grouping bias can modulate the interpretational impact of speech prosody in ambiguous situations, which should surface in delta-band oscillations when grouping patterns chosen by comprehenders differ from those indicated by prosody. In our auditory electroenc…
Active and secreted IgA-coated bacterial fractions from the human gut reveal an under-represented microbiota core
2013
AbstractHost-associated microbiota varies in distribution depending on the body area inhabited. Gut microbes are known to interact with the human immune system, maintaining gut homoeostasis. Thus, we studied whether secreted-IgA (S-IgA) coat specific microbial taxa without inducing strong immune responses. To do so, we fractionated gut microbiota by flow cytometry. We found that active and S-IgA-coated bacterial fractions were characterized by a higher diversity than those observed in raw faecal suspensions. A long-tail effect was observed in family distribution, revealing that rare bacteria represent up to 20% of total diversity. While Firmicutes was the most abundant phylum, the majority …
Two Distinct Auditory-Motor Circuits for Monitoring Speech Production as Revealed by Content-Specific Suppression of Auditory Cortex
2015
Speech production, both overt and covert, down-regulates the activation of auditory cortex. This is thought to be due to forward prediction of the sensory consequences of speech, contributing to a feedback control mechanism for speech production. Critically, however, these regulatory effects should be specific to speech content to enable accurate speech monitoring. To determine the extent to which such forward prediction is content-specific, we recorded the brain's neuromagnetic responses to heard multisyllabic pseudowords during covert rehearsal in working memory, contrasted with a control task. The cortical auditory processing of target syllables was significantly suppressed during rehear…
An ensemble analysis of electromyographic activity during whole body pointing with the use of support vector machines.
2011
Import JabRef | WosArea Life Sciences and Biomedicine - Other Topics; International audience; We explored the use of support vector machines (SVM) in order to analyze the ensemble activities of 24 postural and focal muscles recorded during a whole body pointing task. Because of the large number of variables involved in motor control studies, such multivariate methods have much to offer over the standard univariate techniques that are currently employed in the field to detect modifications. The SVM was used to uncover the principle differences underlying several variations of the task. Five variants of the task were used. An unconstrained reaching, two constrained at the focal level and two …
Modeling Human Endometrial Decidualization from the Interaction between Proteome and Secretome
2011
Context: Decidualization of the human endometrium, which involves morphological and biochemical modifications of the endometrial stromal cells (ESCs), is a prerequisite for adequate trophoblast invasion and placenta formation. Objective: This study aims to investigate the proteome and secretome of in vitro decidualized ESCs. These data were combined with published genomic information and integrated to model the human decidualization interactome. Design: Prospective experimental case–control study. Setting: A private research foundation. Patients: Sixteen healthy volunteer ovum donors. Intervention: Endometrial samples were obtained, and ESCs were isolated and decidualized in vitro. Main Ou…
Relation between fixation disparity and the asymmetry between convergent and divergent disparity step responses
2007
Abstract The neural network model of Patel et al. [Patel, S. S., Jiang, B. C., & Ogmen, H. (2001). Vergence dynamics predict fixation disparity. Neural Computation, 13 (7), 1495–1525] predicts that fixation disparity, the vergence error for a stationary fusion stimulus, is the result of asymmetrical dynamic properties of disparity vergence mechanisms: faster (slower) convergent than divergent responses give rise to an eso (exo) fixation disparity, i.e., over-convergence (under-convergence) in stationary fixation. This hypothesis was tested in the present study with an inter-individual approach: in 16 subjects we estimated the vergence step response to a 1 deg disparity stimulus with a subje…
Temporal Structure of Human Gaze Dynamics Is Invariant During Free Viewing.
2015
We investigate the dynamic structure of human gaze and present an experimental study of the frequency components of the change in gaze position over time during free viewing of computer-generated fractal images. We show that changes in gaze position are scale-invariant in time with statistical properties that are characteristic of a random walk process. We quantify and track changes in the temporal structure using a well-defined scaling parameter called the Hurst exponent, H. We find H is robust regardless of the spatial complexity generated by the fractal images. In addition, we find the Hurst exponent is invariant across all participants, including those with distinct changes to higher or…
Does Bold Emphasis Facilitate the Process of Visual-Word Recognition?
2014
AbstractThe study of the effects of typographical factors on lexical access has been rather neglected in the literature on visual-word recognition. Indeed, current computational models of visual-word recognition employ an unrefined letter feature level in their coding schemes. In a letter recognition experiment, Pelli, Burns, Farell, and Moore-Page (2006), letters in Bookman boldface produced more efficiency (i.e., a higher ratio of thresholds of an ideal observer versus a human observer) than the letters in Bookman regular under visual noise. Here we examined whether the effect of bold emphasis can be generalized to a common visual-word recognition task (lexical decision: “is the item a wo…