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bio-Diagnostics outline-Human Genome Project




Question;what is the current state of genomic sequencing and what are the future technologies that will be used in clinical settings to further personalized medicine?Subtopics: Description, Current State of Research, Future Directions and ApplicationsA. I will discuss the current applications of epigenetics as well as propose afuture direction for the use of epigenetics in a diagnostic manner.Advances in the understanding of epigenetics as well as the completionHuman Genome Project has led to an abundance of personalized data.The use of this science and advances in informatics allows for newopportunities to integrate new technologies with diagnostics andtherapeutics.B. Discuss the molecular basis of epigenetics, specifically chromatinimmunoprecipitation.a. DNA methylation and chromatin remodelingb. Structural inheritance systemsc. Discuss how epigenetics can play a role in Angelman syndromeand Prader-Willi syndromeC. Present how the use of bioinformatics methods are playing an increasingrole in computational epigeneticsD. Discuss some chromosomal abnormalities and how epigenetics isassociated with it.a. Inversions (both de novo and familial)1.Advancing Clinical Utility of Genomics with Technology (<3 pages) - VikramSubtopics: Background Information, Current State of the Informatics, Future DirectionsI will discuss the current state of DNA sequencing specifically discussing thecurrent shortcomings in this field. In addition I will discuss the future direction ofthis technology touching base on products like the GeneChip and other DNAmicroarray devices as well as how they will be implemented in the evolvinginformatics field.A. Obtaining sequencing data has gotten faster and less expensive, but bottlenecks exist notjust in regulatory process but also in correlating DNA sequence with clinical outcomes. Akey driver for the future is advancement of clinical utility for other genes with advancesin the bioinformatics pipelines and data management. Major players in sequencingtechnologies are already offering data analysis and data storage cloud services in additionto just the instrumentation. New technologies that break the bottleneck in analysis anddrive clinical utility of additional genes will be crucial to advancing the translation ofsequencing to the clinicB. Discuss current products especially the GeneChipC. Discuss the benefits of sequencing specifically in the prenatal setting.A.a.Verinata?s non-invasive method to determine chromosomalabnormalitiesLimitations:1. Sequencing Cost (0.5 pages) - VikramSubtopics: Description of Sequencing Cost, Insurance Coverage, LegislationI will discuss the costs and availability associated with human whole-genomesequencing. I will also provide details on insurance coverage, research funding,and other methods of payment for sequencing, as well as any legislation related towhole-genome sequencing of the general public.A. I will also discuss the advantages/disadvantages of various methods ofsingle-molecule real-time sequencing


Paper#63037 | Written in 18-Jul-2015

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