The first draft of the new human genome version, known as the human pangenome, has now been published. It covers the genetic information of 47 different people and could significantly expand on the initial human genome reference.
Human Pangenome
According to Live Science, the 47 represented DNA come from various people across the globe. Hence, the genome representation in the sequence is quite diverse in comparison to previous reference genome sequences. The first sequence was published in 2003. However, it harbored gaps and was only "made gapless" by 2022. Live Science notes that if this initial human genome is a simple genetic code string, this new human pangenome consists of various paths that branch out.
This new human pangenome has been published in Nature. It was published by the Human Pangenome Reference Consortium, whose goal is to conduct sequencing of at least 350 different people from diverse populations all over the globe. Live Science notes that despite the fact that 99.9% of the human genome stays the same among humans, there is a significant level of diversity in the remaining 0.1%.
This first draft enables scientists to pick up as many as 18,000 large genome variants. These are areas within the genome where huge chunks have been altered, added, or removed. This draft also adds 1,115 new duplication mutations of genes and 119 million new pairs of bases, which refer to the letter pairs in DNA sequences.
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Revolutionary Genetics
Melissa Gymrek, a researcher in genetics from the University of California who did not participate in the project, explains that rather than using one genome sequence as a reference, it is important to have a representation that covers the genomes of several people in order to better encapsulate human genetic diversity.
Moreover, Karen Miga, a geneticist from the University of California, explains that it is in cataloging and comprehending such intergenome differences that enables scientists to know cell function and biology, genetic differences, and how such differences affect to understanding illnesses.
Science Alert reports that this human pangenome is a major landmark for the field and that it will significantly boost efforts to monitor DNA variations in several medical conditions. It could also help them understand complex conditions where genetics play a serious role, such as immune disorders and autism. This would also come in handy for treatment tracking.
The current draft comprises data from the 1000 Genomes Project's participants. This project was the first attempt to perform genomic sequencing on several people across the globe. The participants granted permission for their genetic sequences to be cataloged anonymously and made available in public databases.
The study also utilized a sequencing technique known as long-read sequencing. This opposes the earlier short-read sequencing, which takes place when small DNA segments are read out and stitched together. While it may garner decent genetic variations, there is room for error due to DNA fragment overlaps. On the other hand, long-read sequencing enables huge chunks of DNA to be captured single-handedly.
According to Eimear Kenny, a co-author of the study and a professor of medicine and genetics at the Icahn School of Medicine's Institute for Genomic Health at Mount Sinai, the researchers are moving towards recruiting other participants to fill in the pangenome's diversity gaps. They have also been able to uncover certain genetic processes with the first draft.
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