Enabling better interoperability and reusability for Down syndrome transcriptomic datasets

Authors

Harrison Oaks, Brigham Young UniversityFollow
Garrett L. Wride, Brigham Young UniversityFollow
Stephen Piccolo, Brigham Young UniversityFollow

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Keywords

bio curation, bioinformatics, down syndrome, data pipeline

Abstract

Introduction: Gene expression profiling has become a cornerstone of biomedical research, offering relevant insights into the molecular mechanisms that underlie complex conditions such as Down syndrome (DS), a condition caused by trisomy 21. RNA expression data from individuals with DS have highlighted critical pathways involved in development, immune function, and disease susceptibility. Despite the availability of over 100 publicly shared RNA expression datasets, their potential remains underutilized due to inconsistent metadata, diverse normalization protocols, and varying data quality. Addressing these barriers is vital to enabling researchers to standardize, integrate, and analyze datasets effectively. We do this by creating a data pipeline that contains the following steps: data collection, quality control, normalization, and metadata standardization, resulting in interoperable data (see Fig. 2).

BYU ScholarsArchive Citation

Oaks, Harrison; Wride, Garrett L.; and Piccolo, Stephen, "Enabling better interoperability and reusability for Down syndrome transcriptomic datasets" (2025). Library/Life Sciences Undergraduate Poster Competition 2025. 56.
https://scholarsarchive.byu.edu/library_studentposters_2025/56

Document Type

Article

Publication Date

2025

Language

English

College

Life Sciences

Department

Biology

University Standing at Time of Publication

Junior

Copyright Use Information

https://lib.byu.edu/about/copyright/