Coriell Institute has contributed to a landmark scientific effort to establish the world’s largest collection of human samples for the study of genetic variation, a development that will accelerate significant disease and genome-wide studies.
Founded by the National Human Genome Research Institute (NHGRI) – a division of the National Institutes of Health (NIH) – the 1000 Genomes Project Consortium has created an unprecedented and vast catalog of genetic variance that identifies nearly 88 million sites in the genome.
The findings were recently published in Nature as two papers concentrating on specific areas of the project: “A Global Reference for Human Genetic Variation,” and “An Integrated Map of Structural Variation in 2,504 Human Genomes.” Coriell’s contributions are recognized as part of the 1000 Genomes Project Consortium, in acknowledgment of the Institute’s vital role as a partner in this important undertaking.
Home to the NHGRI Sample Repository for Human Genetic Research, which contains the 1000 Genomes Project samples, in addition to the materials used for the International HapMap Project, Coriell has served as the source of biomaterials for researchers pursuing 1000 Genomes Project milestones.
These highly valuable cell lines and DNA samples were collected from sample donors across 26 distinct human populations representing Africa, Asia, Europe and North and South America, and were distributed to scientists on the strength of Coriell’s world-class biobanking program.
“From a combined perspective on infrastructure, expertise and capability, Coriell has long been distinguished as a leader in biobanking capacity,” says Dr. Alissa M. Resch, Principal Investigator of the NHGRI Sample Repository for Human Genetic Research at Coriell and one of the 1000 Genomes Project Consortium authors on the two Nature papers.
“By collaborating with influential and visionary scientists, while also adhering to stringent quality control measures, we are positioned to enable meaningful exploration and cutting-edge enterprises, such as the 1000 Genomes Project.”
The findings signify completion of a larger effort that was commenced eight years ago and has expanded to involve an international consortium of more than 500 scientists and a wide range of research and academic centers.
Designed to yield a formative resource on human genetic variation (on most of the genetic variants with frequencies of one percent or higher), the 1000 Genomes Project may have implications for genome-wide association studies, in addition to providing susceptibility insights around serious health conditions, such as heart disease and cancer.
“With so much emphasis on the need to migrate to a precision medicine model and treat complex human diseases more intelligently and effectively, the progress made by the 1000 Genomes Project will be recognized as a pivotal scientific achievement,” says Dr. Resch.
To access the Nature publications, click here.
For more information about the 1000 Genomes population samples available through the NHGRI Sample Repository for Human Genetic Research at Coriell, please click here.
