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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 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
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI), part of NIH. People … affected zebrafish's muscles by injecting the normal human MYMK gene product into the mutant fish. This success … Facial Weakness Disorders ID:NCT02055248. The National Human Genome Research Institute (NHGRI) is one of the 27 …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
… syndrome. It is caused by infection with the human immunodeficiency virus (HIV), which leads to loss of …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… use different strains of mice as animal models to study human diseases because most genes in humans have similar … genetics of Down syndrome has important implications for human clinical trials that aim to improve cognition,” said … Kennedy Shriver National Institute of Child Health and Human Development, senior investigator in the National Human …
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 … feeling] about the launch of the Human Genome Project. Francis Collins Eric Green … To … When I first heard of the ambitious effort called the Human Genome Project, I was … The Human Genome Project …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… linked by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI), part of the National … think may suggest a possible mechanism for how the human disease occurs. … Kastner and his team worked to find a … another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… Kiara Palmer … Brenda Iriele grew up seeing first-hand the human cost of inadequate healthcare. Raised in Nigeria, a … to assist scientists with building out the Atlas of Human Malformation Syndromes in Diverse Populations , an online resource that …
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, …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… Genomics is illuminating human and family origins at a level not previously possible. … your ancestors, both near and distant? Advances since the Human Genome Project allow us to compare genome sequences … among the most common questions that humans ponder. The Human Genome Project produced a reference human genome …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… with PFAPA syndrome … Researchers at the National Human Genome Research Institute (NHGRI), part of the National …