The new announcement of scientists sequencing a full human genome might have you wondering, wait, didn’t that already happen? The Human Genome Project was completed in 2003, but National Human Genome Research Institute Director Eric Green said only 92% of the human genome was successfully sequenced.
“The remaining 8% or so of the human genome is really messy stuff, mostly reflecting sections of the human genome that consist of long repetitive stretches of letters that are difficult to read, and also difficult to put in their right place in the overall assembled sequence,” Green said
The technology of the day limited researchers, but Green said that’s not the case anymore.
“These scientists saw this amazingly important puzzle was missing a few pieces and decided to take all the technical advancements of the last two decades, with a dash of creativity, and hardcore computer science, and even a bunch of intellectual sweat to complete the picture,” Green said.
Evan Eichler, who was part of the Human Genome Project, said while 8% might not seem like much, those missing sections tell a lot about us as humans.
“Most interesting to me is they carry genes that make us uniquely human,” Eichler said. “About half of the genes that are thought to make our bigger brain compared to the other apes come specifically from these regions, which were absent in the original Human Genome Project.”
Green said the completion also has direct ties to your life.
“This will also be a future where the sequences deeply inform our conversations with healthcare providers, helping us make more knowledgeable decisions about our health,” Green said.
The completed sequencing was done by an international team of scientists known as the Telomere to Telomere Consortium.
