The new human pangenome was unveiled Wednesday in an article in the scientific journal Nature and has the potential to revolutionize personalized medicine. It comes more than 20 years after scientists released the first draft sequence of the human genome, which was based on the DNA of one mixed-race man from New York.
The new pangenome, using the latest in DNA sequencing technology, is more inclusive and collates the genetic sequences of 47 men and women of diverse origins, including South Americans, African Americans, East Asians, West Africans and Caribbean Islanders.
"The first draft of a human pangenome reference -- a collection that aims to eventually represent as many as possible of the DNA sequences found across our species -- is published," Nature tweeted Wednesday.
The original DNA blueprint, which looked like an uncoiled strand in a straight line, has been replaced with a new pangenome that shows a large variation in routes, representing global human diversity.
Scientists say the pangenome, unlike the original DNA strand, will help them detect small genetic differences that contribute to certain health conditions, including heart disease and schizophrenia, and improve the ability to diagnose disease and discover new drugs.
"We are finding remarkable patterns of genetic variation," said Evan Eichler, a genome sciences professor at the University of Washington School of Medicine who was involved in the project. "There were hints of this before, but we didn't actually have the right microscope to see this."
"We've gone from having one really nice blueprint of the Chevy to now having blueprints of 47 representative cars from each sof 47 different manufacturers," said Dr. Eric Green, director of the National Human Genome Research Institute that funded the work.
As the new pangenome incorporates more diverse genetic sequences, it also adds 119 million base pairs to the previously known 3.2 billion base pairs that make up the human genome.
"Having a high quality human pangenome reference that increasingly reflects the diversity of the human population will enable scientists and healthcare professionals to better understand how genomic variants influence health and disease," Green said "and move us towards a future in which genomic medicine benefits everyone."
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