In the November issue of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program. Other topics include: ClinGen and ClinVar featured in a special issue of Human Mutation, NIH enacting a policy change for summary results from genomics studies, a request for information (RFA) on the proposed NIH Data Management and Sharing Policy, the NIH All of Us Program funding awards for genome sequencing centers, and more.
North Asians, including Mongolians and other Siberian ethnic groups, may be more closely related to Eastern and Northern Europeans - including the people of Finland - than previously thought, according to a new genomics study in Nature Genetics. The international team of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic variation data.
The National Institutes of Health has updated its Genomic Data Sharing Policy to again allow unrestricted access to genomic summary results for most of the studies it supports. These summary results come from analyzing pooled genomic data from multiple individuals together to generate a statistical result for the entire dataset. Such information can be a powerful tool for helping researchers determine which genomic variants potentially contribute to a disease or disorder. Read the blogpost co-authored by NHGRI Director Eric Green
In the United States, an estimated 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most never have related health complications. NIH researchers and their colleagues have now identified three health conditions for which people with SCT are at increased risk. They include pulmonary embolism, proteinuria and chronic kidney disease. Findings from this first comprehensive review of clinical outcomes associated with SCT were published in the October 30, 2018, issue of the Annals of Internal Medicine.
Researchers at the National Institutes of Health (NIH) and the United States Department of Agriculture (USDA) have developed a new technique that will aid in a more accurate reconstruction of genomes, specifically in determining the sections of the genome that come from each parent. This new technique, published in the journal Nature Biotechnology, will allow researchers to identify further complexity within any type of genome - from plants to humans - and provide more precise reference genomes in researcher databases than are currently available.