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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… , and then moderate the presidential symposium titled, Genetic Epidemiology at Scale: High Throughput Genomics … Session B 124. Khadijah Abdallah: New tool for measuring genetic variation knowledge among health professionals. … analysis with replication data. (Statistical Genetics and Genetic Epidemiology) 1425W. Emily Holzinger: A variable …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… Year in Review Testing and managing iron overload after genetic screening-identified hemochromatosis Actionable … with lifespan in Iceland Impact of digitally enhanced genetic results disclosure in diverse families Chronic … routine whole-genome sequencing Clinical signatures of genetic epilepsies precede diagnosis in electronic medical …
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… … Undiagnosed Diseases Program, rare diseases, genetic disorder … UDN expands the footprint of the network …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… Mendelian disorders. … The discovery of the genes and genetic variants that underlie human Mendelian disorders is … involve similar genes, pathways, and phenotypes. While the genetic basis of more than 5,000 Mendelian disorders has been … so far, many more Mendelian disorders and their underlying genetic basis have yet to be discovered. Recent advances in …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… the clinical relevance or validity of genes in various genetic disorders for their use in precision medicine and … know their family history and have undergone genetic testing. The term “QT” refers to the segment of an … was described in 1957, researchers have engaged in a genetic race to identify the genes associated with long QT …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… Medicine, Genomics In The Clinic, Prenatal Testing, Genetic Testing … The Genomic Medicine Working Group explores …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… disease. Many of the studies point to new associations of genetic variants with a number of conditions and disorders, … "Many are focused on understanding some aspect of the genetic architecture of different traits, conditions and … in the eMERGE Network. Another examines ways that the genetic makeup of individuals from different populations and …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… disease phenotypes. … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… well understood, but scientists believe that they have a genetic component because they often run in families. … Director Stephen I. Katz, M.D., Ph.D. "Knowledge of the genetic risk factors helps us assess a person's … can be a challenge because in most cases a complex mix of genetic and environmental factors is involved. Genetic …