Posted: September 13th, 2017

Diagnostic Clinical Genome and Exome Sequencing

Diagnostic Clinical Genome and Exome Sequencing

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Choose one question below and write a paragraph based on it.

Focus questions for clinical genome and exome sequencing:

1.) In “Diagnostic Clinical Genome and Exome Sequencing”, Biesecker et al. are critical of the way doctors have been ordering CGES tests in the past and offer new factors for a doctor to consider before ordering the CGES test. They define the basics of CGES testing and suggest various measures that should be taken prior to placing an order for CGES.
How do the researchers limit the scope of their review? What do they decide to focus on and what have they acknowledged to be leaving out? Is this an effective strategy?

2.) In “Diagnostic Clinical Genome and Exome Sequencing”, Biesecker et al. are critical of the way doctors have been ordering CGES tests in the past and offer new factors for a doctor to consider before ordering the CGES test. They define the basics of CGES testing and suggest various measures that should be taken prior to placing an order for CGES.
Does the process of CGES make sense? Is the synthesis of basics among the various possibilities help or hinder the general understanding of what is happening? How many sources were used to develop this summary of CGES basics?

3.) In “Diagnostic Clinical Genome and Exome Sequencing”, Biesecker et al. are critical of the way doctors have been ordering CGES tests in the past and offer new factors for a doctor to consider before ordering the CGES test. They define the basics of CGES testing and suggest various measures that should be taken prior to placing an order for CGES.
Is the image of exon sequencing clear and necessary? Is the accompanying breakdown useful? Who would understand this information? How else could this information be described to an unfamiliar audience?

4.) In “Diagnostic Clinical Genome and Exome Sequencing”, Biesecker et al. are critical of the way doctors have been ordering CGES tests in the past and offer new factors for a doctor to consider before ordering the CGES test. They define the basics of CGES testing and suggest various measures that should be taken prior to placing an order for CGES.
How effective is the comparison between exon and genome sequencing? Can an argument be made to support one over the other using the information provided? What can you do with the given information to make a case for one over the other?

5.) In “Diagnostic Clinical Genome and Exome Sequencing”, Biesecker et al. are critical of the way doctors have been ordering CGES tests in the past and offer new factors for a doctor to consider before ordering the CGES test. They define the basics of CGES testing and suggest various measures that should be taken prior to placing an order for CGES.
Why should a doctor compile an extensive history/profile Of a patient before ordering CGES? What should be included and why? How will this information be beneficial in terms of narrowing down sequencing options?

6.) In “Diagnostic Clinical Genome and Exome Sequencing”, Biesecker et al. are critical of the way doctors have been ordering CGES tests in the past and offer new factors for a doctor to consider before ordering the CGES test. They define the basics of CGES testing and suggest various measures that should be taken prior to placing an order for CGES.
Is the database, currently, comprehensive? What are it’s strengths for exon/genome sequencing? What are it’s weaknesses? In actuality, what can be done with the database in terms of locating a caustic variant?

7.) In “Diagnostic Clinical Genome and Exome Sequencing”, Biesecker et al. are critical of the way doctors have been ordering CGES tests in the past and offer new factors for a doctor to consider before ordering the CGES test. They define the basics of CGES testing and suggest various measures that should be taken prior to placing an order for CGES.
In what situations would sequencing be a logical order to make? What factors need to be known before a call is made? Furthermore, what needs to be known before a variant can be labelled caustic?

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