Towards a Mouse pan-genome: maximising the potential of mouse as an animal model

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• Mohab Helmy, Postdoctoral Fellow (Keane research group) EMBL-EBI Cambridge
• Wednesday 15 March 2023, 14:00-15:00
• CMS, Meeting Room 15.

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For over a century, the mouse has been used to model human disease, leading to many fundamental discoveries about mammalian biology and the development of new therapies. However, until recently only the C57BL /6J strain was subject to complete genome sequencing despite the presence of a substantial amount of phenotypic variations among strains. Here, we provide the first complete mouse pan-genome using reference-quality genomes of 17 of the most widely used mouse strains. These genomes have near-complete representation of regions of high diversity and structural variation. Analysis of these genomes highlights the impact of genetic variants and non-reference haplotypes on our understanding of mouse protein coding diversity. We highlight the impact of using strain-specific reference genomes for a variety of mouse genetics experiments on non-B6 backgrounds, including hybrid mouse lines, RNA -Seq quantification, and fine mapping of QTLs. In addition, we highlight the impact of combining read and graph based approaches for the identification of structural variants. The availability of this pan-genome marks a new era of mouse genomics maximising the potential of mouse strains as animal models as well as providing novel insights into their evolutionary history

This talk is part of the Computational and Systems Biology Seminar Series 2022 - 23 series.

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