An Ocular Gene-Set Expression Library for Heritability Partition and Cell Line Enrichment Analyses.

ABSTRACT:

Purpose

Use of genome-wide association studies (GWASs) in combination with transcriptomic arrays of different tissues or cell lines can reveal relevant cellular profiles and significantly improve understanding of the mechanisms of diseases. However, due to difficulty of access, few ocular transcriptomics datasets are available. This work aimed to create and make available an expression library platform that can be used with popular and versatile tools such as the linkage disequilibrium score (LDSC) regression techniques to identify specific cell lines enriched in ocular diseases.

Methods

We used transcriptome information from six publicly available single-cell and single-nucleus RNA sequence datasets to obtain matrices of normalized gene expression and estimated enrichment o

SUBMITTER: Hysi PG 

PROVIDER: S-EPMC11892535 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature