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- 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 Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… baby might also detect cancer in the mother. … Clinical Studies …
Human Genome Project
Record and submit a short video, capturing your thoughts/concerns/excitement about the launch of the Human Genome Project.
… 1, 2020, marks the 30th anniversary of the launch of the Human Genome Project. NHGRI would like you to help us commemorate … feeling] about the launch of the Human Genome Project.  Francis Collins Eric Green  … To …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Genome-Wide Association Studies (GWAS) … A genome-wide association study (GWAS) is an approach used in … with particular diseases. … Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… Genome-wide association studies involve scanning markers across the genomes of many … disease and mental illnesses. … With the completion of the Human Genome Project in 2003 and the International HapMap … include computerized databases that contain the reference human genome sequence, a map of human genetic variation and a …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… Genotype-Tissue Expression (GTEx) project to explore how human genes are expressed and regulated in different tissues, … Heart, Lung, and Blood Institute (NHLBI). "The new studies complement the current GTEx project in assessing … in the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI), which helps administer the …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… obesity clusters in families. Researchers at the National Human Genome Research Institute (NHGRI), part of the National … variant, according to the study. Most of the genomic studies conducted on obesity to date have been in people of …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… in helping researchers understand how your environment and genome may impact your sickle cell disease? Are you … About Sickle Cell Disease Sickle Cell Trait National Human Genome Research Institute - Learning about Sickle Cell …
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 scientists … vast batteries of genes simultaneously. In microarray studies, a robot is used to precisely apply tiny droplets …
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 …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with … for many years (see Figure 1). With the growing scale of human genetics studies and the increasing number of clinical applications …