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Abstract
This paper explores the utilization of comparative genomics data from the Zoonomia Project to understand the genetic architecture of human traits and diseases. By analyzing evolutionary constraint scores across 240 mammalian genomes, researchers identified conserved genomic regions, revealing insights into functional importance and disease-related variants. The study highlights the role of both coding and non-coding regions, particularly cis-regulatory elements (CREs), in disease susceptibility. Furthermore, it discusses the application of these findings in developing improved animal models for human diseases, emphasizing the importance of considering sequence and activity conservation when modeling non-coding elements.
Publisher
The Innovation
Published On
May 20, 2023
Authors
Maosen Ye, Deng-Feng Zhang
Tags
comparative genomics
Zoonomia Project
genetic architecture
human diseases
evolutionary constraints
cis-regulatory elements
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