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- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- 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
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, …
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 …
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. … …
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 … The Genomic Variation Program supports large-scale studies of human genetic variation as part of projects such …
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 … in Nature Genetics , is one of the largest such genomic studies of blood pressure to date, including data from over 1 … the researchers combined four large datasets from genome-wide association studies of blood pressure and hypertension. …
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 … of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and …
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 …
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 …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… of funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National Cancer … For the last decade, scientists have used genome-wide association studies (GWAS) to find regions of the genome associated with …