Search results for "Informatics"
showing 10 items of 2542 documents
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
2020
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…
LSC Abstract – Functional metagenomics of respiratoy microbiome in exacerbated COPD
2015
Background: The course of COPD is frequently aggravated by exacerbations. New molecular techniques have suggested that many bacterial groups, not only the common COPD pathogens, could trigger the exacerbations. Objective: to analyze the microbial community and the gene content of samples obtained during stability and exacerbation of COPD patients. Method: 16S rRNA was pyrosequenced to obtain the taxonomic information. The metabolic information was obtained with the Metagenomics RAST server (MG-RAST) with KEGG database. Results: 8 severe COPD patients were included. At genus level, 68 different OTUs were found. No significant differences in the relative abundance of any of the detected gener…
Deep Neural Networks for Prediction of Exacerbations of Patients with Chronic Obstructive Pulmonary Disease
2018
Chronic Obstructive Pulmonary Disease (COPD) patients need help in daily life situations as they are burdened with frequent risks of acute exacerbation and loss of control. An automated monitoring system could lead to timely treatments and avoid unnecessary hospital (re-)admissions and home visits by doctors or nurses. Therefore we present a Deep Artificial Neural Networks for approach prediction of exacerbations, particularly Feed-Forward Neural Networks (FFNN) for classification of COPD patients category and Long Short-Term Memory (LSTM), for early prediction of COPD exacerbations and subsequent triage. The FFNN and LSTM models are trained on data collected from remote monitoring of 94 pa…
Stronger proprioceptive BOLD-responses in the somatosensory cortices reflect worse sensorimotor function in adolescents with and without cerebral pal…
2020
Graphical abstract
3D segmentation of abdominal aorta from CT-scan and MR images
2012
International audience; We designed a generic method for segmenting the aneurismal sac of an abdominal aortic aneurysm (AAA) both from multi-slice MR and CT-scan examinations. It is a semi-automatic method requiring little human intervention and based on graph cut theory to segment the lumen interface and the aortic wall of AAAs. Our segmentation method works independently on MRI and CT-scan volumes and has been tested on a 44 patient dataset and 10 synthetic images. Segmentation and maximum diameter estimation were compared to manual tracing from 4 experts. An inter-observer study was performed in order to measure the variability range of a human observer. Based on three metrics (the maxim…
CUSHAW Suite: Parallel and Efficient Algorithms for NGS Read Alignment
2017
Next generation sequencing (NGS) technologies have enabled cheap, large-scale, and high-throughput production of short DNA sequence reads and thereby have promoted the explosive growth of data volume. Unfortunately, the produced reads are short and prone to contain errors that are incurred during sequencing cycles. Both large data volume and sequencing errors have complicated the mapping of NGS reads onto the reference genome and have motivated the development of various aligners for very short reads, typically less than 100 base pairs (bps) in length. As read length continues to increase, propelled by advances in NGS technologies, these longer reads tend to have higher sequencing error rat…
P5313The association between coffee and caffeine consumption and renal function: insight from individual-level data, Mendelian randomization, and met…
2019
Abstract Background The reported relationship between coffee intake and renal function is poorly understood. Purpose By applying on two-sample Mendelian randomization (MR) and systematic review and meta-analysis we investigated the association between caffeine and coffee intake with prevalent CKD and markers of renal function. Methods For the individual data analysis we analysed the NHANES data on renal function markers and caffeine intake. MR was implemented by using summary-level data from genome-wide association studies conducted on coffee intake (N=91,462) and kidney function (N=133,413). Inverse variance weighted method (IVW), weighted median-based method, MR-Egger, MR-RAPS, MR-PRESSO …
BCL2 gene polymorphisms and splicing variants in chronic myeloid leukemia.
2015
Recent data suggest that constitutional genetic variation in the antiapoptotic BCL2 gene could be associated with the susceptibility to develop chronic myeloid leukemia (CML) and the clinical outcome in several hematological malignancies. The present study examines whether BCL2 single nucleotide polymorphisms (SNPs) predispose to CML or may potentially influence the disease characteristics at diagnosis. Notably, no association was observed between the four candidate BCL2 SNPs and the risk of developing CML. Instead, the 4777C>A (rs2279115) and the 5735A>G (rs1801018) SNPs were significantly associated with the disease risk profile as determined by the Sokal score. We found that such polymor…
Targeted sequencing in a phase III trial of luminal breast cancer: Identification of novel targets.
2017
505 Background: The International Cancer Genome Consortium and The Cancer Genome Atlas have had a global transformative impact on our understanding of cancer. These programs have mapped the genomic landscape of common and rare tumors setting the scene for a comprehensive change in the approach to cancer diagnosis and treatment. However, the task remains incomplete until these mutational events are linked to clinical outcomes in the context of current therapeutic intervention to drive future stratified medicine approaches. Methods: We performed targeted sequencing in patients from the Tamoxifen Exemestane Adjuvant Multicentre trial. DNA was extracted and a 101 gene panel analysed using a no…
Thirteen miRNAs involved in the response of breast cancer cells to doxorubicin.
2013
e12019 Background: Mature microRNAs (miRNAs) are a class of naturally occurring, small non-coding RNA molecules, about 21–25 nucleotides. Growing evidence shows that miRNAs exhibit a variety of regulatory functions related to cell growth, development, and differentiation, and are associated with a wide variety of human diseases. Several miRNAs have been linked to cancer; since expression analysis studies have revealed perturbed miRNA expression in tumors compared to normal tissues. As a consequence, human miRNAs are likely to be highly useful as biomarkers, especially for future cancer diagnostics, and are emerging as targets for disease intervention. Since doxorubicin (DOX) has been used …