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Scientists create world's largest catalog of human genomic variation

Read moreBethesda, Md., Mon., Sept. 30, 2015 - An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers powerful clues to why some people are susceptible to various diseases. Understanding how these differences - called genomic variants - contribute to disease may help clinicians develop improved diagnostics, treatments and prevention methods. The two studies are published online today, Sept. 30, in Nature. Read more

Grants to help identify variants in the genome's regulatory regions that affect disease risk 

Read moreBethesda, Md., Mon., Sept. 21, 2015 - Six new grants from the National Institutes of Health will support researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for three years each, and total approximately $13 million, pending the availability of funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute, both parts of NIH. Read more

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Genome Advance of the Month

Gene-editing technology uncovers genetic link to infertility

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Infertility - difficulty getting or staying pregnant - can come at a high financial and emotional cost, affecting about 6 million women and 4 million men in the United States. About half of these cases could be due to genetic factors. Now, new research techniques are yielding insight into the genetic roots of infertility. The August Genome Advance of the Month looks at a study in the Proceedings of the National Academy of Sciences that addresses the complex genetics of infertility using genetic sleuthing and cutting-edge, gene-editing technology. Read more

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Research of Interest

Last Updated: September 30, 2015