Balancing the transcriptome: leveraging sample similarity to improve measures of gene specificity.

ABSTRACT: The spatial and temporal domain of a gene's expression can range from ubiquitous to highly specific. Quantifying the degree to which this expression is unique to a specific tissue or developmental timepoint can provide insight into the etiology of genetic diseases. However, quantifying specificity remains challenging as measures of specificity are sensitive to similarity between samples in the sample set. For example, in the Gene-Tissue Expression project (GTEx), brain subregions are overrepresented at 13 of 54 (24%) unique tissues sampled. In this dataset, existing specificity measures have a decreased ability to identify genes specific to the brain relative to other organs. To solve this problem, we leverage sample similarity information to weight samples such that overrepresented tissue

SUBMITTER: Bondhus L 

PROVIDER: S-EPMC9487600 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature