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- Ethical, Legal and Social Implications (ELSI) Research Program7
- 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 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
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… assumed. Additional Resources for Holoprosencephaly About Holoprosencephaly NINDS Holoprosencephaly Information … GARD: Holoprosencephaly … What do we know about holoprosencephaly? … Is there a test for … for holoprosencephaly? … What is the prognosis? … About Holoprosencephaly … Holoprosencephaly is a disorder …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… future offspring would have the condition. To learn more about the genetic test for progeria, go to The Progeria … Hutchinson-Gilford Progeria Syndrome … What do we know about heredity and progeria? … Is there a test for progeria? … About Progeria … Progeria is an extremely rare genetic …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… that carries oxygen and nutrients to cells in the body. About 100,000 babies worldwide are born with severe forms of … Thalassemia.com GARD: Thalassemia … What do we know about heredity and thalassemia? … Is there a test for thalassemia? … About Thalassemia … Thalassemia is a group of inherited …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… DNA sequences that make up a human genome. Learn more about this extraordinary achievement. … The Human Genome … human genome sequence. Instead, they had only completed about 92% of the sequence at that time. Why did they stop … A computer scientist’s quest to complete a critical genomics puzzle March 17, 2022 … Nurk et al. The complete …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… for achondroplasia? … Is achondroplasia inherited? … About Achondroplasia … Achondroplasia is a disorder of bone …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… … How is neurofibromatosis treated? … What do we know about heredity and Neurofibromatosis? … About Neurofibromatosis … Neurofibromatosis is a genetic …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… the treatment for hemophilia? … Is hemophilia inherited? … About Hemophilia … Hemophilia is a bleeding disorder that …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… … What is the treatment for PKU? … Is PKU inherited? … About Phenylketonuria … Phenylketonuria is an inherited …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… of ~1/1000th of the human genome sequence – specifically, about 3 million G’s, A’s, T’s, and C’s stretching nearly 100 … “the complete human genome sequence would [have required] about 15 miles of hallway.” Check out a video tour of this … and accomplishments from the institute and the field of genomics. … The International Common Disease Alliance …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… Eric Green, M.D., Ph.D. … This issue of The Genomics Landscape comes at an especially difficult time, … available (and growing!) that provide valuable information about the COVID-19 pandemic, including those at the Centers … NHGRI seeks input from the genomics community to learn about programs and strategies that have proven successful at …