Skip to main content

ASU Global menu

Skip to Content Report an accessibility problem ASU Home My ASU Colleges and Schools Sign In
Arizona State University Arizona State University
ASU Library KEEP

Main navigation

Home Browse Collections Share Your Work
Copyright Describe Your Materials File Formats Open Access Repository Practices Share Your Materials Terms of Deposit API Documentation
Skip to Content Report an accessibility problem ASU Home My ASU Colleges and Schools Sign In
  1. KEEP
  2. Theses and Dissertations
  3. Barrett, The Honors College Thesis/Creative Project Collection
  4. Whole Exome Sequencing: What it is and how it can help
  5. Full metadata

Whole Exome Sequencing: What it is and how it can help

Full metadata

Description

The Dorrance Center for Rare Childhood Disorders is a unique research division at TGen (The Translational Genomics Research Institute) that provides personalized care to children and young adults facing rare, undiagnosed diseases. TGen scientists believe that the answers to these enigmatic disorders can often be found in a person's genetic code. They aim to solve these genetic mysteries using whole exome sequencing, a method that prioritizes the protein-coding portion of the genome in the search for disease-causing variants. Unfortunately, a communication gap sometimes exists between the TGen scientists and the patients they serve. I have seen, first hand, the kind of confusion that this study elicits in the families of its participants. Therefore, for my thesis, I decided to create a booklet that is meant to provide some clarity as to what exactly The Dorrance Center for Rare Childhood Disorders does to help diagnose children with rare disorders. The purpose of the booklet is to dispel any confusion regarding the study by providing a general review of genetics and an application of these lessons to the relevant sequencing technology as well as a discussion of the causes and effects of genetic mutations that often times are linked to rare childhood disorders.

Date Created
2015-05
Contributors
  • Cambron, Julia Claire (Author)
  • LaBelle, Jeffrey (Thesis director)
  • Huentelman, Matt (Committee member)
  • Barrett, The Honors College (Contributor)
  • Department of Chemistry and Biochemistry (Contributor)
  • School of Life Sciences (Contributor)
Topical Subject
  • Rare Childhood Disorders
  • Genetics
  • Communication Gap
  • TGen
  • Whole Exome Sequencing
Resource Type
Text
Extent
26 pages
Language
eng
Copyright Statement
In Copyright
Primary Member of
Barrett, The Honors College Thesis/Creative Project Collection
Series
Academic Year 2014-2015
Handle
https://hdl.handle.net/2286/R.I.29266
Level of coding
minimal
Cataloging Standards
asu1
System Created
  • 2017-10-30 02:50:57
System Modified
  • 2021-08-11 04:09:57
  •     
  • 1 year 5 months ago
Additional Formats
  • OAI Dublin Core
  • MODS XML

Quick actions

About this item

Overview
 Copy permalink

Share this content

Feedback

ASU University Technology Office Arizona State University.
KEEP

Contact Us

Repository Services
Home KEEP PRISM ASU Research Data Repository
Resources
Terms of Deposit Sharing Materials: ASU Digital Repository Guide Open Access at ASU

The ASU Library acknowledges the twenty-three Native Nations that have inhabited this land for centuries. Arizona State University's four campuses are located in the Salt River Valley on ancestral territories of Indigenous peoples, including the Akimel O’odham (Pima) and Pee Posh (Maricopa) Indian Communities, whose care and keeping of these lands allows us to be here today. ASU Library acknowledges the sovereignty of these nations and seeks to foster an environment of success and possibility for Native American students and patrons. We are advocates for the incorporation of Indigenous knowledge systems and research methodologies within contemporary library practice. ASU Library welcomes members of the Akimel O’odham and Pee Posh, and all Native nations to the Library.

Number one in the U.S. for innovation. ASU ahead of MIT and Stanford. - U.S. News and World Report, 8 years, 2016-2023
Maps and Locations Jobs Directory Contact ASU My ASU
Copyright and Trademark Accessibility Privacy Terms of Use Emergency COVID-19 Information