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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
News Release
A new educational resource funded by the National Human Genome Research Institute (NHGRI) is now available to improve genomic literacy among physicians.
… … A new educational resource funded by the National Human Genome Research Institute (NHGRI) is now available to improve … by the Training Residents in Genomics Working Group of the Association of Pathology Chairs, which includes experts in … … A new educational resource funded by the National Human Genome Research Institute (NHGRI) is now available to improve …
Healthcare Provider Genomics Education Resource
Discipline-specific genomic competencies are knowledge and skills that a provider needs in order to perform specific functions in genomic healthcare. Competency-based healthcare education is an outcomes-based approach that uses competencies to organize and structure curricula and continuing education.
… as a genetic counselor. Medical School Education 2022 Association of Professors of Human and Medical Genetics … and behaviors required in medical practice across a wide range of specialties. Nurses: All The Essentials of …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… However, other conditions and syndromes have been found in association with DS. These include malformation of the … and nervous system, as well as: Okihiro's syndrome, an association of DS with forearm malformation and hearing loss, …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… A sedentary lifestyle: getting little exercise … Research studies are helping scientists to understand the genetic …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… thanks to a new partnership between the National Human Genome Research Institute (NHGRI), part of the National … for professional societies are now available on G2C2. The Association for Molecular Pathology , the National Society of … develop the resources and technology that will accelerate genome research and its application to health care." G2C2 has …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Klinefelter Syndrome Medline Plus: Karyotyping American Association for Klinefelter Syndrome Information and Support …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.