Scientists Reveal Catalog of Human Genetic Variation

Researchers Reveal Catalog of Human Genetic Variation

Researchers reveal a catalog of human genetic variation.

Newly published research details the effects of human genetic variation, finding that each person possesses on average about 150 variants capable of disabling genes.

A massive effort to study human genetic variation has ended with publication of two papers in the September 30 issue of the journal Nature that catalog the genomes of more than 2,500 people representing 26 different populations across the globe.

“This is the definitive resource on human variation. It will help us to ask questions such as why is one person susceptible to disease while another isn’t,” said Yale’s Mark Gerstein, a major contributor to the seven-year-old international effort to assess the effects of human genetic variation.

Gerstein’s Yale group was instrumental in assessing the functional impact of different kinds of genetic variation. In particular, Gerstein and colleagues found each person possesses on average about 150 variants capable of disabling genes. Most of these variants were mutations of single nucleotides that comprise DNA but some involved large block deletions. While understanding the function of these mutations will help pinpoint causes of disease, researchers were also struck by the ability of humans to accommodate so much variation in their genomes. “I think it is amazing that each of us have such a large number of potentially high impact variations yet so many of us still are healthy and happy,” Gerstein said.


“A global reference for human genetic variation” by The 1000 Genomes Project Consortium, 30 September 2015, Nature.
DOI: 10.1038/nature15393

“An integrated map of structural variation in 2,504 human genomes” by Peter H. Sudmant, Tobias Rausch, Eugene J. Gardner, Robert E. Handsaker, Alexej Abyzov, John Huddleston, Yan Zhang, Kai Ye, Goo Jun, Markus Hsi-Yang Fritz, Miriam K. Konkel, Ankit Malhotra, Adrian M. Stütz, Xinghua Shi, Francesco Paolo Casale, Jieming Chen, Fereydoun Hormozdiari, Gargi Dayama, Ken Chen, Maika Malig, Mark J. P. Chaisson, Klaudia Walter, Sascha Meiers, Seva Kashin, Erik Garrison, Adam Auton, Hugo Y. K. Lam, Xinmeng Jasmine Mu, Can Alkan, Danny Antaki, Taejeong Bae, Eliza Cerveira, Peter Chines, Zechen Chong, Laura Clarke, Elif Dal, Li Ding, Sarah Emery, Xian Fan, Madhusudan Gujral, Fatma Kahveci, Jeffrey M. Kidd, Yu Kong, Eric-Wubbo Lameijer, Shane McCarthy, Paul Flicek, Richard A. Gibbs, Gabor Marth, Christopher E. Mason, Androniki Menelaou, Donna M. Muzny, Bradley J. Nelson, Amina Noor, Nicholas F. Parrish, Matthew Pendleton, Andrew Quitadamo, Benjamin Raeder, Eric E. Schadt, Mallory Romanovitch, Andreas Schlattl, Robert Sebra, Andrey A. Shabalin, Andreas Untergasser, Jerilyn A. Walker, Min Wang, Fuli Yu, Chengsheng Zhang, Jing Zhang, Xiangqun Zheng-Bradley, Wanding Zhou, Thomas Zichner, Jonathan Sebat, Mark A. Batzer, Steven A. McCarroll, The 1000 Genomes Project Consortium, Ryan E. Mills, Mark B. Gerstein, Ali Bashir, Oliver Stegle, Scott E. Devine, Charles Lee, Evan E. Eichler and Jan O. Korbel, 30 September 2015, Nature.
DOI: 10.1038/nature15394

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