Conservation of Human GWAS Variants in the Mouse Genome


Connor Kean

Document Type


Publication Date

Summer 2018

JAX Location

In: Student Reports, Summer 2018, The Jackson Laboratory


Non-coding genetic variants can play an important role in the development of complex disease. Therefore, the functional annotation of non-coding risk alleles is essential to the understanding of complex disease. The purpose of this project is to systematically conmpare the conservation of variants linked to autoimmunity risk in humans. Our analysis of the conservation levels for risk alleles across human and mice will inform us on the broad-scale feasibility of evaluating putative causal variants for pl1ysiological function using a mouse model. Implementation of the tool will provide researchers with a fast and flexible way of determining conservation level of known SNPs, while also allowing for t11e comparison of de novo variants. Our tool will enable sequence comparisons of varying length, ranging from a single nucleotide to a 250 nucleotide block. Thus, our tool will allow for the rapid identification of differences in non-coding genetic architecture between conserved elements among the human and mouse genomes.

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