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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 …
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 …
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.
… 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 January 25, 2023, the National Human Genome Research Institute will hold a roundtable on social and behavioral genomics.
… of educational attainment” by the Social Science Genetic Association Consortium Problems with Using Polygenic Scores … and social justice lab … Biographies … The National Human Genome Research Institute (NHGRI) of the National Institutes … behavior. Panelists will discuss genetics and genomics studies that may be stigmatizing as well as strategies for …
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… Ph.D. The Jackson Laboratory. Michael Smith, Ph.D. NHGRI Genome Structure and Function: Part I Session … Jesse Dixon, M.D. Ph.D. Salk Institute for Biological Studies 9:25 a.m. AVATAR: Novel Technology for Highly … Genomic Technology (GT) Program grantees who work on a wide range of novel approaches to studying the structure and …