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What are New Results of Human Genome Sequencing?

Scientists discover new results of human genome sequencing, which is expected to promote research on human diseases

Introduction: Recently, researchers at the University of Maryland School of Medicine discovered a new result of human genome sequencing. This progress is expected to promote future research aimed at understanding the impact of human genome variations on human diseases.


Is gene sequencing the only method of genetic testing?

Gene sequencing is only one of the methods of genetic testing. It is also called gene profile sequencing, which is an internationally recognized standard for genetic testing.


Recently, researchers from the University of Maryland School of Medicine (UMSOM) published a paper entitled "Haplotype-resolved diverse human genomes and integrated analysis of structural variation" in the journal Science, announcing a new achievement in human genome sequencing.

Genome sequencing


The researchers detailed the sequencing of 64 complete human genomes. This reference data includes individuals from all over the world, which can better capture the genetic diversity of human species. 

Among other applications, this work will enable population-specific research on the genetic susceptibility of human diseases and the discovery of more complex forms of genetic variation.


Twenty years ago, the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. 

However, this more comprehensive reference data set represents 25 different human populations around the world, which can better reflect the genetic differences from different populations and serve as a new reference for understanding human disease susceptibility.


On this basis, scientists have conducted multiple sequencing projects in the past 20 years to identify and classify genetic differences between individuals and reference genomes. These differences usually focus on small single-base changes while ignoring larger genetic changes. Now, current technologies are beginning to detect and characterize larger differences (called structural variations), such as the insertion of new genetic material. Compared with smaller genetic differences, structural variations are more likely to interfere with gene function.


The new discovery of "Science" magazine announced a new and more comprehensive reference data set obtained by combining advanced sequencing and mapping technologies. 

The new reference data set reflects 64 assembled human genomes, representing 25 different human populations worldwide. Importantly, each genome was assembled without the guidance of the first human genome complex. 

As a result, the new data set can better capture genetic differences from different populations.


Dr. Scott Devine said: "We have entered a new era of genomics, in which exciting new technologies can be used to sequence the entire human genome. These new technologies can provide larger and more accurate readings of DNA bases. Enables researchers to study previously inaccessible regions of the genome that are associated with human characteristics and diseases."


The Genome Resource Center (GRC) of the Institute of Genomic Sciences (IGS) is one of three sequencing centers, along with the Jackson Laboratory and the University of Washington, which use new sequencing technology recently developed by Pacific Biosciences to generate data. 

GRC is one of only five early access centers required to test the new platform.


Dr. E. Albert Reece said: "This landmark new study shows that we have a deep understanding of the basis of genetically driven health. This progress is expected to promote future developments aimed at understanding the impact of human genome mutations on human diseases. the study."


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