Biology

Understanding and modeling human traits and diseases: Insights from the comparative genomics resources of Zoonomia

M. Ye and D. Zhang

This groundbreaking research by Maosen Ye and Deng-Feng Zhang uncovers the genetic underpinnings of human traits and diseases using data from the Zoonomia Project. By scrutinizing evolutionary constraints across 240 mammalian genomes, the team reveals the critical roles of conserved genomic regions, coding and non-coding regions, and guides the development of better animal models for studying human diseases.

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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

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