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- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… panel sequencing) or looking at all 20,000 genes (exome or genome sequencing). Because this type of testing produces a … single nucleotide polymorphism (SNP), genome-wide association studies (GWAS) and deep sequencing for somatic …
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
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 …
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 …
Staff
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… Texas. Following completion of her undergraduate studies, she received technical training at the University of … models of cancer. At this time, she started her graduate studies at Hood College in Frederick and received her Masters … generating targeted insertions and other applications for studies in transgenic mice. … The NHGRI Embryonic Stem Cell …
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 …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… of many people are sequenced, millions of sites in the genome differ among those people. Some of these genetic … of genes? A start to interpreting variation is a genome-wide association study (GWAS), in which the genomes of thousands …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Dr. Stewart studies phenotypes and genetic determinants of familial … affected individuals. His research group established the association among a variety of novel NF1 phenotypes, … 1: genetic, functional and clinical evidence of a novel association. Cancer Research , 69 (18): 7393-7401. 2009. [ …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… and Comparative Genomics Branch at the National Human Genome Research Institute of NIH. She earned her Ph.D. from … predisposition and breed sharing combined with genome-wide association, to find the inherited loci associated with high …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… In a new study, researchers at the National Human Genome Research Institute (NHGRI) have generated the largest … The researchers used whole genome sequencing and genome-wide association studies to identify genomic variants associated …