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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
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 …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute.​​ ​ … Genetic Disorder, Genetic …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… through case-based learning. The genetic and genomic case studies created by the ISCC Case Studies Working Group members represent examples of scenarios … Pharmacogenomic In collaboration with the National Human Genome Research Institute Title: Mitochondrial DNA mutation …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… human subjects. Clinical researchers at the National Human Genome Research Institute (NHGRI) are developing advanced … patients before they ever develop cancer. … All clinical studies are based on a set of rules or directions called a … [fda.gov].  … Clinical researchers at the National Human Genome Research Institute (NHGRI) are developing advanced …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
Health
The Method for Introducing a New Competency: Genomics (MINC) Toolkit assists those interested in integrating genomics into their practice.
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… in an analysis can help identify new regions of the genome that affect lipids," said Amy R. Bentley, Ph.D., the … Genomic Epidemiology (CHARGE) , which facilitates genome-wide association studies. A genome-wide association study involves …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… too early yet to be certain. New research studies, called genome-wide association studies (GWAS) are an approach that involves …