Epigenetic constraint of cellular genomes evolutionarily links genetic variation to function
Enakshi Sinniah, Dalia Mizikovsky, Woo Jun Shim, Chris Siu Yeung Chow, Yassine Souilmi, Feifei Cheng, Zhili Zheng, Jordan Laurie, Matthew Foster, Sonia H Shah, Mikael Bodén A, Jian Zeng, Bastien Llamas, Nathan J. Palpant
The paper identifies regions of the human genome under cellular constraint by analyzing chromatin accessibility across cell types, showing their predictive power for functional loci and applications in variant identification and drug discovery.
bioRxiv · Oct 28, 2024 · PreprintGenetics