27 Jun 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 Applications
A. I will discuss the current applications of epigenetics as well as propose a
future direction for the use of epigenetics in a diagnostic manner.
Advances in the understanding of epigenetics as well as the completion
Human Genome Project has led to an abundance of personalized data.
The use of this science and advances in informatics allows for new
opportunities to integrate new technologies with diagnostics and
therapeutics.
B. Discuss the molecular basis of epigenetics, specifically chromatin
immunoprecipitation.
a. DNA methylation and chromatin remodeling
b. Structural inheritance systems
c. Discuss how epigenetics can play a role in Angelman syndrome
and Prader-Willi syndrome
C. Present how the use of bioinformatics methods are playing an increasing
role in computational epigenetics
D. Discuss some chromosomal abnormalities and how epigenetics is
associated with it.
a. Inversions (both de novo and familial)
1.Advancing Clinical Utility of Genomics with Technology (<3 pages) - Vikram
Subtopics: Background Information, Current State of the Informatics, Future Directions
I will discuss the current state of DNA sequencing specifically discussing the
current shortcomings in this field. In addition I will discuss the future direction of
this technology touching base on products like the GeneChip and other DNA
microarray devices as well as how they will be implemented in the evolving
informatics field.
A. Obtaining sequencing data has gotten faster and less expensive, but bottlenecks exist not
just in regulatory process but also in correlating DNA sequence with clinical outcomes. A
key driver for the future is advancement of clinical utility for other genes with advances
in the bioinformatics pipelines and data management. Major players in sequencing
technologies are already offering data analysis and data storage cloud services in addition
to just the instrumentation. New technologies that break the bottleneck in analysis and
drive clinical utility of additional genes will be crucial to advancing the translation of
sequencing to the clinic
B. Discuss current products especially the GeneChip
C. Discuss the benefits of sequencing specifically in the prenatal setting.
A.a.
Verinata’s non-invasive method to determine chromosomal
abnormalities
Limitations:
1. Sequencing Cost (0.5 pages) - Vikram
Subtopics: Description of Sequencing Cost, Insurance Coverage, Legislation
I will discuss the costs and availability associated with human whole-genome
sequencing. I will also provide details on insurance coverage, research funding,
and other methods of payment for sequencing, as well as any legislation related to
whole-genome sequencing of the general public.
A. I will also discuss the advantages/disadvantages of various methods of
single-molecule real-time sequencing
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