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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National … cultured cells to exhibit the signature traits of the disease. Using this model, they have now tested a drug …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… of Health is establishing the Multi-Omics for Health and Disease Consortium , with approximately $11 million awarded … the generation and analysis of “multi-omic” data for human health research. Multi-omics refers to a research … the molecular factors and cellular processes involved in human health and disease, including untangling genetic and …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… are susceptible to various diseases. … Powerful Clues for Disease Susceptibility While most differences in peoples' … in addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National … These genomic differences, many of which affected genes, include deletions (loss of DNA), insertions (added …
Health FAQ
Discuss these questions with your doctor or health care provider.
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … effect and influence the activity of nearby cancer-causing genes, which could lead to the development of cancer. Experts …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… The National Human Genome Research Institute (NHGRI) hosted the Knockout … on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and … collaborators, specifically groups focused on human genes and variants who may find KOMP data helpful for their …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… for many years (see Figure 1). With the growing scale of human genetics studies and the increasing number of clinical … paid to understanding the underlying costs of generating a human genome sequence. Accurately determining the cost for sequencing a given genome (e.g., a human genome) is not simple. There are many parameters to …
Educational Resources
The Human Genome Project was an international project that mapped and sequenced the entire human genome.
… Human Genome Project … The Human Genome Project was an international project that mapped and sequenced the entire human genome. … Human Genome Project, Francis Collins, DNA, …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… In 2003, an accurate and complete human genome sequence was finished and made available to … (cDNAs) for more than 70 percent of known human and mouse genes. … Area Goal Achieved Date Genetic Map 2- to … to track inheritance in families and susceptibility to disease, so scientists are working hard to develop a …
Educational Resources
LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome.
… the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome. … Family Health History, Genealogy, Genetic Disease … An LOD (short for “logarithm of the odds”) score is …