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Sequencing 64 complete human genomes to better capture genetic diversity



DNA sequence

The structure of the genome. Credit: NIH

The 64 human genomes sequenced will serve as a new reference for genetic variation and human disease susceptibility

Researchers from the University of Maryland School of Medicine (UMSOM) co-authored a study that was published today in the journal science, Which details 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 make it possible to study populations of genetic susceptibility to human diseases and discover more complex forms of genetic variation.

Twenty years ago this month, the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. The so-called Human Genome Project requires 1

1 years of work and involves more than 1,000 scientists in 40 countries. However, this reference does not represent a single individual, but a human complex that cannot accurately reflect the complexity of human genetic variation.

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. Current technologies are now 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 is 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.

“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 a larger amount of more accurate sequence information. DNA Said Dr. Scott Devine, a co-author of the study, associate professor of medicine at UMSOM and professor at IGS. “This allows researchers to study previously inaccessible regions of the genome that are related to human characteristics and diseases.”

The Genome Resource Center (GRC) of the Institute of Genomic Sciences (IGS) is one of three sequencing centers, Jackson Labs and Washington UniversityThis data uses a 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. Devine helped lead the sequencing work of this research and also led the subgroup of authors who discovered the existence of “moving elements” (DNA fragments that can move around and insert into other regions of the genome). . The other members of the Institute of Genomic Sciences (IGS) at the University of Maryland School of Medicine are one of 65 co-authors. Dr. Luke Tallon, the scientific director of the Genome Resource Center, collaborated with Dr. Devine to produce one of the earliest human genome sequences on the Pacific Bioscences platform, which contributed to this research. Nelson Chuang, a graduate student in Dr. Devine’s lab, also contributed to the project.

Dr. E. Albert Reece, Executive Vice President of Medical Affairs at UM Baltimore, said: “This landmark new study shows that we have an in-depth understanding of the basis of genetically driven health.” And Akiko K. Bowers, Distinguished Professor and Dean of the University of Maryland School of Medicine. “This progress is expected to promote future research aimed at understanding the impact of human genome variations on human diseases.”

References: “Comprehensive analysis of genomic and structural variation of different human haplotype resolved” by: Peter Ebert, Peter A. Audano, Zhu Qihui, Bernardo Rodriguez-Martin, David Porubsky, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Zhao Xuefang, PingHsun Hsieh, Joyce Lee, Sushant Kumar, Lin Jiadong, Tobias Rausch, Yu Chen, Ren Jingwen, Martin Santamarina, Wolfram Höps, Hufsah Ashraf, Nelson T. Chuang, Yang Xiaofei, Katherine M. Chuang Sen, Alexandra P. Lewis, Susan Fairley, Luke J. Tallon, Wayne E. Clark, Anna O. Basil, Marta Basca Bishop, Andre Kovello, Uday S. Ivani, Lu Zongyu, Mark JP Caisen, Chen Junjie Chongli, Harrison Brand, Aaron M. Wenger, Mariam Galle Garni, William T. Harvey, Benjamin Reid, Patrick Hasenfield, Alison A. Rigel, Hayley J. Abel, Ira M. Hall, Paul Foley Checker, Oliver Stig, Mark B. Gerstein, Jose MC Tubio, Mu Zepeng, Yang Yang Lee, Shi Xinghua, Alex Hasty, Kai Ye, Ze Chenchong , Ashley Sanders, Michael C. Zody, Michael E. Talkowski, Ryan E. Mills, Scott E. Devine, Charles Lee, Jan O. Korbel, Tobias Marschall and Evan E. Eichler, February 2021 On the 25th science.
DOI: 10.1126/science.abf7117




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