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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)3
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.