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dc.contributor.authorWang, Jia
dc.date.accessioned2019-11-27T09:06:37Z
dash.embargo.terms2019-05-01
dc.date.created2017-05
dc.date.issued2017-06-27
dc.date.submitted2017
dc.identifier.citationWang, Jia. 2017. Role of Copy-Number Variations in Non-Coding Regions of Autism Spectrum Disorders. Master's thesis, Harvard Medical School.
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:41940983*
dc.description.abstractAutism Spectrum Disorders have a strong genetic basis. So far, only a small fraction of affected individuals has been linked to a certain genetic risk factor. Previous genetic studies focused on analyses of the protein-coding regions in the genomes of Autism Spectrum Disorder affected individuals whereas the relationship between the non-coding regions and Autism Spectrum Disorder development was largely unexplored. Copy-number variants, a type of genomic rearrangements, has been suggested to contribute significantly to phenotypic diversity and disease susceptibility in many neurodevelopmental disorders. In this study, I assessed the copy-number variations recorded in SFARI Gene, an on-going database that collects copy-number variations reported in the published scientific literature. I systematically evaluated the effect of copy-number variations in the non-coding regions of Autism Spectrum Disorder genomes. By combining the chromosomal interaction information and the expression quantitative trait loci data, I found that Autism Spectrum Disorder specific copy-number variations were enriched in the non-coding regions, especially in the enhancer regions. In addition, I identified 19 novel functional cis-regulatory enhancers in Autism Spectrum Disorders.
dc.description.sponsorshipMaster of Medical Sciences in Biomedical Informatics
dc.format.mimetypeapplication/pdf
dc.language.isoen
dash.licenseLAA
dc.subjectautism spectrum disorders
dc.subjectcopy-number variations
dc.subjectfunctional enhancers
dc.titleRole of Copy-Number Variations in Non-Coding Regions of Autism Spectrum Disorders
dc.typeThesis or Dissertation
dash.depositing.authorWang, Jia
dash.embargo.until2019-05-01
dc.date.available2019-11-27T09:06:37Z
thesis.degree.date2017
thesis.degree.grantorHarvard Medical School
thesis.degree.grantorHarvard Medical School
thesis.degree.levelMasters
thesis.degree.levelMasters
thesis.degree.nameMaster of Medical Sciences
thesis.degree.nameMaster of Medical Sciences
dc.contributor.committeeMemberPark, Peter
dc.contributor.committeeMemberKharchenko, Peter
dc.contributor.committeeMemberLee, Eunjung
dc.type.materialtext
dash.identifier.vireo
dc.identifier.orcid0000-0001-7031-816X
dash.author.emailwangjia.ion@gmail.com


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