Jackson Lab reports major genome study results

Derek Hayn/Centerbrook Architects An exterior view of the Jackson Laboratory for Genomic Medicine at the UConn Health campus.

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Major research into variations in the human genome has been completed by a consortium of international researchers, including the scientific director at The Jackson Laboratory for Genomic Medicine in Farmington. The 1000 Genomes Project, launched in 2008, is a global initiative to sequence the genomes of large numbers of people.

“With the 1000 Genomes Project, we are providing a truly global and comprehensive resource on human genetic variation and critical insights for the scientific community regarding genetic associations to disease,” said Charles Lee, Ph.D., professor and scientific director at The Jackson Laboratory for Genomic Medicine. The genomes of 2,504 individuals from 26 populations—in Africa, East Asia, Europe, South Asia and the Americas—were reconstructed using a combination of sequencing techniques. The resulting dataset is now publicly available to the research community.

Lee was the first to identify widespread structural variation in the human genome, in the form of copy number variants—repetitions or deletions of genes that may have a role in health and disease, according to Jackson Lab. Lee and members of his lab, including Ankit Malhotra and Chengsheng Zhang, were among the authors of the two back-to-back papers published this week in Nature, reporting the completion of the project.