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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
Mobile DNA elements are ubiquitous in nearly all species and mobile element insertions can affect nearby gene expression through many mechanisms, from disrupting coding regions to initiating DNA methylation to altering RNA splicing patterns. Thousands of mobile element insertions are still polymorphic in human populations, and these polymorphic mobile element insertions (pMEIs) can contribute to transcriptome and phenotypic variation in humans. We identified and genotyped pMEIs using the whole genome sequencing (WGS) data from the Genotype-Tissue Expression (GTEx) project. We then used the extensive multi-tissue transcriptome data from the GTEx project to systematically assess the effects of pMEIs on human transcriptome variation.
- Study Design:
- Cross-Sectional
- Study Type:
- Reference Set
- Total number of consented subjects: 638
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
The subjects were collected by the GTEx project (phs000424.v8.p2).
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Reference Values
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- Study Attribution
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Principal Investigator
- Jinchuan Xing, PhD. Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
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Principal Investigator