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FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… of reference that gave rise to the PRSs used in a clinical population and considering any discordance in the population that gave rise to the PRS and the clinical population it has been implemented in... would be key to any …
Educational Resources
A cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the cell.
Jobs at NHGRI
An NIH-funded postdoctoral position is available in the Childhood Complex Disease Genomics Section (CCDGS), a new section in the Center for Precision Health Research at NHGRI, under Dr. Neil Hanchard.
… available datasets and conducting targeted functional studies utilizing single cell technologies. The anticipated work includes the integration of population genetics with models of admixture and local … and databases, genetic epidemiology and statistics, population genetics, or complex trait analyses are especially …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… acquisition of large sample sets from unique populations. Studies of these rare patients and populations have proven … … Medical Genetics Branch … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. … The Medical Genetics Branch studies inherited disorders of metabolism and of human …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… The Genomic Variation Program supports large-scale studies of human genetic variation as part of projects such … and the 1000 Genomes Project. The program supports many studies developing data analysis methods for how to relate … to infer demographic history, selection, and other population genetic processes. The program also works with …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… through case-based learning. The genetic and genomic case studies created by the ISCC Case Studies Working Group members represent examples of scenarios … by the ISCC's Competency Working Group. These case studies also include suggestions for practice-based …
Educational Resources
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
… Cytogenetics … Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus. … DNA, … diseases. … Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus. … …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… supervision of Dr. James Mullins, Dr. Shriner studied the population genetics of human immunodeficiency virus type 1, … of gene × gene interactions in genome-wide association studies of human population data. Hum. Hered. 63(2): 67–84. Yandell, B. S., …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… affecting between 1 in 1,000 to 1 in 2,500 children -- few studies have been conducted in non-Europeans according to … that Noonan syndrome was similar across different population groups. Only two clinical elements differed among …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… are less certain. In the future, we need bigger human studies using more updated techniques.” Human studies will also always be more challenging. Unlike … to have a specific mutation to cause a disease.” Future studies are needed to look more directly at the impact that …