Search results for: Maheboobsab B. Nadaf

Authors: Tushar Vasant Salunkhe, Sariput M. Nawghare, Maheboobsab B. Nadaf, Sushovan Dutta, J. N. Mandal

Abstract:

The model tests were conducted in the laboratory without and with plastic recycled polymer in fly ash steep slopes overlaying soft foundation soils like fly ash and power soil in order to check the stability of steep slope. In this experiment, fly ash is used as a filling material, and Plastic Recycled Polymers of diameter = 3mm and length = 4mm were made from the waste plastic product (lower grade plastic product). The properties of fly ash and plastic recycled polymers are determined. From the experiments, load and settlement have measured. From these data, load–settlement curves have been reported. It has been observed from test results that the load carrying capacity of mixture fly ash with Plastic Recycled Polymers slope is more than that of fly ash slope. The deformation of Plastic Recycled Polymers slope is slightly more than that of fly ash slope. A Finite Element Method (F.E.M.) was also evaluated using PLAXIS 3D version. The failure pattern, deformations and factor of safety are reported based on analytical programme. The results from experimental data and analytical programme are compared and reported.

Keywords: factor of safety, finite element method (FEM), fly ash, plastic recycled polymer

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Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

Abstract:

Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

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