The conservation of human functional variants and their effects | ResearchBunny

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Abstract

This study investigates the prevalence and effects of human functional variants in livestock species. Researchers found that orthologues of over 1.6 million human variants are present in domesticated mammals, including hundreds linked to human traits and diseases. Machine learning models successfully identified human variants with livestock orthologues, demonstrating that the effects of these variants are frequently conserved across species. This highlights the potential of naturally occurring livestock models for studying human genetic variants.

Publisher

Communications Biology

Published On

Sep 21, 2022

Authors

Rongrong Zhao, Andrea Talenti, Lingzhao Fang, Shuli Liu, George Liu, Neil P. Chue Hong, Albert Tenesa, Musa Hassan, James G. D. Prendergast

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