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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 …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute. ​
… interplay of silencing elements in regulating active gene expression, Dr. Elnitski developed a system to detect these … tumor types. Furthering the complexity of regulated gene expression, transcriptional splicing is an intricate and … of silencers and enhancer-blockers in the greater CFTR locus. Genome Research , 18(8):1238-46. 2008. [ PubMed ] …