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A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … A … that are statistically associated with a risk for a disease or a particular trait. The method involves surveying …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… to find genetic variations associated with a particular disease. … A genome-wide association study is an approach … associated with a particular disease. Once new genetic associations are identified, researchers can use the … form of blindness is associated with variation in the gene for complement factor H, which produces a protein …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of genetic variants with a number of conditions … medical records in genomic research studies to understand gene-disease associations. A large number of samples in …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on … were available for molecular testing, half had BRAF V600E gene mutations, which is sometimes seen in colon cancer, lung … Residency Program, accumulation of histocytes, new gene discovery … NHGRI researchers have identified new genes …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… set the stage for understanding how microRNAs fine-tune gene expression in pancreatic islets and its implications for … set the stage for understanding how microRNAs fine-tune gene expression in pancreatic islets and its implications for … Prolonged high blood sugar levels can lead to heart disease, kidney disease and vision loss. Currently, diabetes …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… with genomic differences in the semaphorin-4D ( SEMA4D ) gene were about 6 pounds heavier than those without the … person's risk of developing diabetes, hypertension, heart disease and some cancers. While obesity mostly results from … SEMA4D in obesity and obesity-related traits. (The SEMA4D gene plays a role in cell signaling, the immune response and …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… including the prevalence and severity of chronic kidney disease, short stature, dilated cardiomyopathy and … therapies in propionic acidemia, specifically systemic AAV gene therapy, a lead indication for the Platform Vector Gene Therapy (PaVe-GT) program. Currently, Dr. Shchelochkov …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice with a rare disease similar to one in humans, hoping their findings may eventually help improve gene therapy for humans. Researchers at the National Human …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.