By: April Carson
According to a new study, scientists have finished the full genetic blueprint for human life, filling in the gaps left by researchers who completed nearly all of it almost two decades ago.
The new genome sequence is more than 99.9 percent accurate, the team reports in the journal Nature. And it will help researchers identify genes that play a role in disease and development, as well as understand how humans are genetically similar to or different from other animals.
In a study published Thursday in the journal Science, an international team described the first ever sequencing of a whole human genome — the set of instructions to create and maintain a human being —, according to researchers.
DNA sequencing techniques of the time were not able to read portions of it, which made previous efforts incomplete. Even now, it is missing about 8% of the genome after correcting errors.
"Some of the genes that make us uniquely human were actually in this 'dark matter of the genome' and they were totally missed," said Evan Eichler, a University of Washington researcher who participated in the current effort and the original Human Genome Project. "It took 20-plus years, but we finally got it done."
In the hours before he died, Eichler spoke optimistically with his staff. "We thought we were done," one of his employees confirms. "I'm telling you, they said it was the sixth time," says Eichler.
According to researchers, this comprehensive picture of the genome will provide mankind a deeper knowledge of our evolution and biology while also allowing for medical breakthroughs in areas such as aging, neurodegenerative diseases, cancer, and heart disease.
"We're just expanding our research horizons," said Karen Miga, a lead author of one of the six papers published Thursday.
The study completes decades of effort. The first draft of the human genome was revealed in a White House ceremony in 2000 by officials from two competing organizations: an international publicly funded project directed by a branch of the U.S. National Institutes of Health and a private firm, Maryland-based Celera Genomics.
The human genome is made up of about 3.1 billion DNA molecules, each composed of four chemical letters: A, C, G, and T. Genes are sequences of these lettered pairs that give instructions for the production of proteins, which are the fundamental components of life. Humans have around 30,000 genes organized in 23 chromosome-based clusters known as chromosomes that reside inside every cell's nucleus.
"It has been a while since we've had consistent, huge gaps in our map," Miga said. "These holes occur in key areas, and they have been there for quite some time."
One of the biggest hurdles to completing the human genome was figuring out how to sequence very long stretches of DNA accurately. Newer sequencing machines can read extremely long strings of genetic code, but they are expensive and often require a lot of hands-on attention from skilled technicians.
The project, named after the final segments of chromosomes called telomeres, is known as the Telomere-to-Telomere, or T2T, group. After years of effort to complete a partial genome sequence for one individual's chromosome five and some key regions in between, Miga collaborated with Adam Phillippy of the National Human Genome Research Institute to organize a team of scientists that would start from scratch and try to sequence all of it again—including previously missing pieces. The Telomere-to-Telomere (T2T) collaboration was formed.
Their research adds current genetic information to the human genome, corrects known flaws, and uncovers important roles for long sections of DNA that are believed to play a role in both evolution and disease. Last year's study was published before it was reviewed by scientific peers; a version of it has now been published after being subjected to critical examination.
"This is a substantial improvement, in my opinion," geneticist Ting Wang of Washington University School of Medicine in St. Louis told LiveScience after the study's publication. "I would say that this is an increase in the Human Genome Project's influence by a factor of two."
Eichler said, "Before I came to Utah, some scientists thought unknown regions may hold 'junk.' Not me. "Some of us always felt there was gold in those hills," he added.
Eichler is a Howard Hughes Medical Institute employee who also contributes to The Associated Press's health and science department.
It turns out that gold has a lot of essential genes, such as those involved in human brain growth, which produce more neurons and connections than a chimp's.
To identify such genes, researchers needed new techniques to interpret life's complex genetic code.
"I think this is one of the most important papers that has ever been published in the history of science," said Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine in Houston, which led the international effort.
To read genes, scientists must break the DNA strands into hundreds of to thousands of letter-long pieces. Scientists attempt to put the pieces in the correct order using sequencing machines that scan through each piece and identify individual letters. Letters that repeat in remote regions are particularly difficult to sequence.
Some sections of DNA were previously unreadable, according to scientists, owing to improvements in gene sequencing machines that now enable them to read a million letters of DNA at once. That allows researchers to identify genes with repeated regions as longer strings rather than short pieces they had to assemble later on.
Another difficulty the researchers faced was that most cells contain genomes from both mother and father, making it difficult to put together the parts correctly. Researchers used a cell line from one "complete hydatidiform mole," an abnormal fertilized egg with no fetal tissue that has two copies of the father's DNA but none of the mother's, to avoid this problem.
What's next? Mapping more genomes, including those with mixed genes from both parents. Because the mole was only XY, this effort could not map one of the 23 chromosomes found in males, known as the Y chromosome.
Wang told me he's collaborating with the T2T group on the Human Pangenome Reference Consortium, which is aiming to create "reference" or "template" genomes for 350 individuals from all over the world.
"We've just gotten one genome correct, and we have to do many more," Eichler continued. "For the field of human genetics, this is the start of something really fantastic."
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April Carson is the daughter of Billy Carson. She received her bachelor's degree in Social Sciences from Jacksonville University, where she was also on the Women's Basketball team. She now has a successful clothing company that specializes in organic baby clothes and other items. Take a look at their most popular fall fashions on bossbabymav.com
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