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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
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute and their international … have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … By adding highly accurate …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … researchers will add Noonan syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations , which they launched last …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… disorder the individual has. However, other conditions and syndromes have been found in association with DS. These include malformation of the skeleton, ears, eyes, kidneys and nervous … as: Okihiro's syndrome, an association of DS with forearm malformation and hearing loss, Wildervanck syndrome, fusion …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… together and characterize a recognizable disease. Some syndromes have a genetic cause. … A syndrome is a collection …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Down Syndrome National Institute of Child Health and Human Development th and Human Development. MedlinePlus National Down Syndrome Society …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.