Nat GenetJClub
Mapping enhancer-gene regulatory interactions from single-cell data.
Nature Genetics · · Journal Article
Sheth, Qiu + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
scE2G models predict enhancer-gene interactions with over 80% accuracy across diverse human cell types, advancing understanding of gene regulation and disease genetics.
- Why it matters: Accurately mapping enhancer-gene interactions is essential for deciphering gene regulation and linking noncoding variants to complex traits, yet current methods face significant challenges.
- What they did: Researchers developed and trained scE2G classification models using single-cell ATAC-seq and multiomic data on over 10,000 element-gene pairs, benchmarking against CRISPR and GWAS data.
- The result: The models outperform existing approaches, enabling detailed maps of regulatory interactions in heterogeneous tissues and aiding interpretation of variants associated with traits like lymphocyte count.
The findingWhy it mattersWhat they didThe result
- 29 cites