Having a diverse representation of not only the human genome, but how diseases may present itself differently among people is necessary in order to provide the best care possible to patients. This article reminded me of how often skin conditions appear in light versus in darker skin and how these conditions are largely represented by white skin in textbooks. For genomes to come from a wide range of individuals regarding ethnicities and locations, then come together to form a overall human genomic reference would provide a more accurate representation of human's genetic makeup with capability of better addressing genetic diseases.
Sunday, July 9, 2023
Pangenome: The New Genetically Diverse Human Genome
genome reference was released over 20 years ago. The new human genome, called "pangenome," takes into account several genetic references from a much more diverse set of individuals than the previous, of which includes only a few dozen individuals yet the base of the DNA was of one man from Buffalo. Compared to the new human genome reference it lacks the variability of the humans at large. Pangenome has filled in the missing pieces of the last reference, 120 million to be exact and captures the 47 individual's genetic sequences, which includes those of African American and South American descent to name of few. To better understand the complexity of the new reference the New York Times article, Scientists Unveil a More Diverse Human Genome, by Elie Dolgin, emphasizes the genetic diversity of the reference by comparing it a corn maze. Each color in the picture references a possible route and include yellow for duplication, pink as inversion, deletion being green and blue, and insertion is light blue.