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Diversifying Genomics: Large variations in African-ancestry genomes

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Baltimore Underground Science Space

101 N Haven St

#105

Baltimore, MD 21224

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Although The Human Genome Project was declared complete in 2003, the human genome is far from a complete picture of the genome sequence of all people. While the release of this sequence, referred to as the human reference genome, has led to huge advances in genomics, genetics, and medicine, it is made of up the DNA of very few individuals and yet is used as a baseline for most human genomics research today. To begin to understand the scope of what we miss when we consider the reference genome to be the baseline for all humans, we examined 910 genomes of individuals of African ancestry from across the Americas, the Caribbean, and Africa. We discovered many previously unreported sequences present in the genomes of the individuals in our study. Our discovery of a vast amount of novel DNA from these individuals demonstrates that if genomics research is to be of equal benefit to all global populations, it is crucial to recognize that the reference genome is not representative of many people. We must create new and better baselines which account for the vast genetic diversity among humans.


Our speaker, Rachel Sherman, is a fourth year PhD student in Computer Science at Johns Hopkins, studying large variants in whole genome sequencing data sets. She currently works on variant discovery and analysis in large population datasets as well as in breast cancer patient data. In her free time she enjoys hanging out with her dog, volunteering at the Maryland SPCA, cooking, and playing volleyball.

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Baltimore Underground Science Space

101 N Haven St

#105

Baltimore, MD 21224

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