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1000
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Abstract/Summary
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In biomedical research, it is common to perform numerous analyses of genomic data, for example, to understand the cause of a particular disease. Regulatory laws protect the privacy of individuals, but hinder access to genomic data. One solution to this is the development of bioinformatics tools to create synthetic DNA data. One of the challenges is to capture genomic diversity representative of differences within and between populations, especially for rare genetic diseases. In this study, we present SynthDNASim, a tool for creating diverse synthetic DNA datasets. Our approach is to create diverse DNA datasets considering factors of genetic evolution and ancestry with Huntington’s disease (HD) as a use case. In particular, with HD variants from European, African, and Middle Eastern populations. We will show our tool and plan on applying semantic methods and tools to make SynthDNASim more FAIR.
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