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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
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- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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- 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 …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge …
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 …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… as well as translational medicine and social science studies, to advance our understanding of this widespread … effective therapies. For example: NIH investments in genome sequencing technology have led to the costs of whole genome sequencing being over a million-fold less expensive …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… Hall 3:00 p.m. — 4:45 p.m Complex Traits Sequencing-based genome-wide association study of triglycerides in East Africans Board No. …
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 …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide Sequencing Implicates Monogenic Disruption of Vascular … - 4:15 p.m. Faith Pangilinan Performance of a genome-wide association study of neural tube defects allows an unbiased …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… how does that affect the interpretation of current studies of different kinds of traits? Are behavioral traits, … decades, however, technology has enabled population-based association studies with cohorts reaching millions of …  Arguello, Alexander Program Director, Division of Genome Sciences National Human Genome Research Institute, NIH …