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- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
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.
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… the Genetic Disease Research Branch at the National Human Genome Research Institute, a part of NIH. "In addition, … the role they have in tumor progression. Read the Study Stacie K. Loftus, Laura L. Baxter, Julia C. Cronin, … New Targets for Treating Melanoma … Related Content … NIH study reveals how melanoma spreads … NIH researchers searched …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… data, with the added dimension of longitudinal design, to study both typical and atypical development. A current focus … adult outcome of childhood ADHD: a multimodal neuroimaging study of response inhibition. American Journal of Psychiatry, …
Educational Resources
A cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the cell.
… … A cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the … … A cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the … … A cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… have discovered over 100 new regions of the human genome, also known as genomic loci , that appear to … the researchers combined four large datasets from genome-wide association studies of blood pressure and hypertension. After …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… and Example An outline to follow for creation of a case study scenario. The existing case studies are listed at the … to use of carbamazepine and allopurinol Type of Case Study: Genomic-based therapeutics, Pharmacogenomic In collaboration with the National Human Genome Research Institute Title: Mitochondrial DNA mutation …
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 million variant sites in the genome have been found so far, including single nucleotide … and responses to drugs and environmental factors, such as association and admixture approaches, and how to use patterns …
Educational Resources
Cytogenetics is the branch of genetics that studies the structure of DNA within the cell nucleus.
… FISH … Cytogenetics is a branch of biology focused on the study of chromosomes and their inheritance, especially as …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian … In doing so, the CMGs will define the state-of-the-art study designs and methods to find the variants and genes … of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and cost-effective than …