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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
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Genome-Wide Association Studies (GWAS) … A genome-wide association study (GWAS) is an …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… Genome-wide association studies involve scanning markers across the genomes of many …
Educational Resources
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
… prevention, diagnosis, and treatment of disease. … Human Genome Project, Genetic Counseling, Genome-Wide Association Studies (GWAS), Pedigree, Pharmacogenomics, …
Talking Glossary
Un estudio de asociación de genoma completo (GWAS por sus siglas en inglés) es un enfoque utilizado en la investigación genética para asociar variaciones genéticas especÃficas con ciertas enfermedades.
… genéticas especÃficas con ciertas enfermedades. … A genome-wide association study (abbreviated GWAS) is a research approach …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… similar faces (elongated face, almond-shaped eyes, wide nose, small ears); eye problems; feeding problems that … that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… erythematosus (SLE) and other similar conditions. Later studies found a protein called the lupus anticoagulant in a … and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood … of the uterus to its normal size). Thrombocytopenia An association with immune thrombocytopenia (low platelets) has …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
… Genomics … Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of … particular gene. … Genomics, Genes, Gene Expression, Human Genome Project … Genomics is a field of biology focused on studying all the DNA of an organism — that is, its genome. Such work includes identifying and characterizing all …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… describes the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of … one generation to another. Genetics involves scientific studies of genes and their effects. Genes (units of heredity) … that describes the study of all of a person's genes (the genome), including interactions of those genes with each …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.