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Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… H, Charles BA, Christman MF, Rotimi CN. UGT1A1 is a major locus influencing bilirubin levels in African Americans. Eur … AR, Emrani P, Cassano PA. Genetic Variation and Gene Expression in Antioxidant-Related Enzymes and Risk of Chronic …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… In collaborative studies, he reported a novel locus ( TNXB ) for vesico-ureteric reflux (VUR) using a … P, Dunston G, Collins F, Rotimi C. A genome wide quantitative trait linkage analysis for serum lipids in type 2 diabetes in …
Staff
Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.
… Minna J., Anderson M.W. A major lung cancer susceptibility locus maps to chromosome 6q23-25. Am J Hum Genet , … Family-based methods for detecting genes responsible for quantitative and qualitative trait variation in the GAW 17 mini-exome sequence data. BMC …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… and Dysmorphology) *2803F. Marjorie Lindhurst: Ubiquitous expression of the Proteus mutation Akt1 c. 49G>A, p. … in selecting a set of genetic predictors explaining quantitative trait variation. (Statistical Genetics and Genetic …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… Markov chain Monte Carlo methods as applied to mapping quantitative trait loci for obesity in model organisms. He contributed … spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics 11(3):313–318. Adeyemo, …
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… Troyer also co-managed the Developmental Genotype-Tissue Expression (dGTEx) program, which is establishing a resource database and tissue bank for studying gene expression during human development. She also served as the …
News Release
NHGRI researchers, collaborators at the University of California (UC) San Diego, UC Davis and the University of Pittsburgh School of Medicine lay out a new framework for comparing dog-to-human aging, one that uses epigenetics as a biological marker to better understand the aging process.
… to study such a progression involves epigenetics -- gene expression changes caused by factors other than the DNA …
Educational Resources
A genotype is an individual's collection of genes.
… the type of variant present at a given location (i.e., a locus) in the genome. It can be represented by symbols. For …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… influences of genomic variants, with a focus on gene expression. Lastly, ML is being used for improving the … scores , which reflect an individual's genetic risk for a trait or disease. ML represents a subcomponent of AI, and …