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- 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
- Genomics-Enabled Learning Health Systems (gLHS)1
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. … cancers. This involves using both linkage and genome-wide association studies of families and case-control studies. In …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… genomes have changed? Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading … group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow … uncontrollably. These changes involve DNA mutations in the genome. Our cells are constantly finding and fixing mutations …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… and terriers are plucky supermodels. National Human Genome Research Institute (NHGRI) researchers reached this … (PNAS). … Understanding Athletic Performance In other studies, largely in humans, researchers have identified about … researchers relied on a new global database of the whole-genome sequences of 722 dogs across 44 domestic breeds, along …
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 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.
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
Educational Resources
A cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the cell.
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.
… 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 …