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Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
Educational Resources
A cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the cell.
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 … Pharmacogenomic In collaboration with the National Human Genome Research Institute Title: Mitochondrial DNA mutation …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… and Skin Diseases (NIAMS) and at the National Human Genome Research Institute (NHGRI) since 1997. Dr. Sood was … bioinformatics tools to her research ranging from genome-wide association studies to positional cloning to functional … high throughput protocols for targeted mutagenesis using genome editing nucleases, particularly CRISPR/Cas9 to …
Educational Resources
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
… Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus. … Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus. …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… false detection rate of 5 percent. About 96 percent of the genome can be studied with high confidence. More than 80 … The Genomic Variation Program supports large-scale studies of human genetic variation as part of projects such … and responses to drugs and environmental factors, such as association and admixture approaches, and how to use patterns …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… implement new technologies and bioinformatics tools for genome analysis that are integral to this discovery pipeline. In aggregate, their studies have the potential to contribute to improved patient … finding genetic relationships between regions of the human genome and cancer development, progression, response to …
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 … The Medical Genetics Branch studies inherited disorders of metabolism and of human … The Medical Genetics Branch studies inherited disorders of metabolism and of human …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… Brody, Ph.D., a senior scientist at the National Human Genome Research Institute (NHGRI), part of the National … and three Es. These impacts have been studied in the human genome. However, Drs. Brody and Parle-McDermott aimed to look … are less certain. In the future, we need bigger human studies using more updated techniques.” Human studies will …