Write 6-page paper (1-1/2 line spacing, 0.5 inch margins) which cri...

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Write 6-page paper (1-1/2 line spacing, 0.5 inch margins) which critically presents the data in all figures and text and how the data supports conclusions reached. Article: De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affectedby Infantile Epileptic Encephalopathy and SUDEP.
Address how the authors narrowed down although the initial variants they saw by whole genomic sequencing down to a single variation in the SCN8a gene. To do this, you may have to do some research beyond this paper to understand what they state in their results. For this paper, you do not have to analyze the data in panels B,D,E of Fig. 2. You should understand the methodology used to derive the data of panels A and C of Fig. 2.

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With the advent of high throughput genome-wide association studies (GWAS) and expression analysis, the investigators are benefitted with this valuable tool that provides detailed insights into the mechanism of disease [1&2]. Candidate gene approaches focuses on genes that codes for drug-metabolizing enzymes; the effect of an SNPs in one or more candidate genes or a combination of SNPs in the treatment of disease is observed [4]. The GWAS studies have been successfully employed in the thousands of vigorous links to explore common variants in complex traits and their associated diseases. Besides common variant GWASs, the study can be explored for other different types of studies particularly rare variant association studies (RVASs). Because of the low-frequency of rare variants, these cannot be identified by conventional genome-wide genotyping studies, although they represent one of the important and unexplored components of the complex trait of disease genetics. In the current scenario, the whole-genome and exome sequencing protocols have emerged as an attainable tool to break down the disease state and their physical trait based on the actual drug dose and the response to the drug, or their other adverse events that have a large role on the pharmacological studies and scientific purpose [3]. The recent technology will help to elucidate the mechanism of disease and will provide detailed insights into the gain-of-function of the altered genes. The approach will provide crucial information about novel drug targets and their importance in drug design studies.
The advent of rapid and relatively inexpensive genome sequencing has provided scientists and caregivers the ability to study the links between disease and individual patients and to use massive genomics and other biological databases to better understand patient genotypes and their implications for disease and treatment. The approach has been explored over the last few years to focus on the common variants that are genetically associated but fewer studies have been made on the rare variants. For analyzing rare variants NGS methodology needs to be developed, the recent techniques for their detection are dispersion which is more robust for analyzing rare variants and to study their protective or deleterious effect on the phenotypes. In spite of this, the analysis of rare variants is...

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