The Human Genome Project has revealed a new dataset containing 64 new sequenced full human genomes that would better reflect genetic diversity.

In a new study titled "Haplotype-resolved diverse human genomes and integrated analysis of structural variation" published in the journal Science, the 64 new human genomes sequenced are expected to become an updated reference for better understanding genetic variations and different predisposition to diseases.

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DNA Strands From A Double Helix Model
(Photo : Joseluissc3 via Wikimedia Commons)
A double helix structure, including its nucleotides

Improving Genetic Diversity

According to a press release from the University of Maryland School of Medicine (UMSOM), this new reference dataset of 64 assembled human genomes correspond to 25 different human populations from all over the world.

Furthermore, the report clarified that the new dataset was compiled completely apart from the original human genome composite now with the Human Genome Project. With this new effort, the new human genomes could better reflect the genetic difference from different segments of the human population.

"We've entered a new era in genomics where whole human genomes can be sequenced with exciting new technologies that provide more substantial and accurate reads of the DNA bases," said Dr. Scott Devine, a co-author of the study and an Associate Professor of Medicine at the UMSOM and a faculty member at the Institute of Genome Science (IGS).

The Genome Resource Center (GRC) at the IGS was one of three sequencing centers - together with those in the University of Washington and Jackson Labs - where the new dataset came from. All three centers used an updated sequencing technology recently developed by Pacific Biosciences, with the IGS GRC being one of the five institutes with early access in testing the new platform.

"The landmark new research demonstrates a giant step forward in our understanding of the underpinnings of genetically-driven health conditions," adds E. Albert Reece, executive vice president for Medical Affairs at UM Baltimore and the John Z. and Akiko K. Bowers Distinguished Professor and Dean at UMSOM. "This advance will hopefully fuel future studies aimed at understanding the impact of human genome variation on human diseases."

The Human Genome Project

Formally launched in 1990, the Human Genome Project was first declared complete on April 14, 2003. In its website, it describes the project as giving mankind "the ability, for the first time, to read nature's complete genetic blueprint for building a human being."

The international collaborative project originally aimed to map out all the nucleotides that are housed in a human haploid reference genome, more than three billion of these organic molecules. This reference genome was intended to serve as the representative example of the human gene, assembled by scientists in the project. It resulted in sequencing individuals and collating the sequences for every chromosome examined, resulting in a "mosaic" reflective of the human race as a whole and not just any particular individual.

Upon its completion in 2003, the Human Genome Project was able to sequence and catalog the euchromatic regions of the human gene - responsible for 92.1 percent of the human genome. The remaining gaps, from heterochromatic regions, were not sequenced in the project.

Additionally, the new study closely coincides with the 20th anniversary of the landmark Human Genome Project publications. In February 2001, journals Nature and Science published the first scientific reports detailing the human genome's near-completed sequence.


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