A comparative medical genomics approach may facilitate the interpretation of rare missense variation

This study compares rare genetic variation in humans and in nine domestic animal species. We found that variants causing disease in these non-human animals tend to also cause disease in humans. The findings suggest that data from DNA sequencing in veterinary medicine could aid in interpreting rare genetic variation seen in the clinic. Our results support the need for more collaboration between previously siloed areas of genetics. With the anticipated surge in genome-wide sequencing in animal species over the next decade, integrating human and veterinary genomic datasets will maximize the utility of this “comparative medical genomics” approach. (By Bushra Haque MSc, https://jmg.bmj.com/content/early/2024/03/20/jmg-2023-109760 )

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