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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
Research Funding
The ELSI Publications and Products Database organizes publications for ELSI projects and activities by the last name of the principle investigator.
… term - related to an ELSI issue, (i.e., discrimination, genetic testing or privacy) The name of the author The name … Legal Issues In Genetics, Social Issues In Genetics, Genetic Discrimination, … The ELSI Publications and Products …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… precision of predicting how individuals with pathogenic genetic variants manifest disease. The ML/AI tools will … precision of predicting how individuals with pathogenic genetic variants manifest disease. … NHGRI aims to establish … precision of predicting how individuals with pathogenic genetic variants manifest disease. … Research Funding …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… of many people suggests that there are tens of millions of genetic variants, or DNA spelling differences. For the last … said Lisa Brooks, Ph.D., program director of the NHGRI Genetic Variation Program. "We are looking for approaches … to predict structural changes in RNA that are caused by genetic variants. Stanford University, Stanford, California; …
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.
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 … data from more than 5,000 samples of children of European ancestry from the EMRs of two large universities. The …
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 …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… years, support research to identify differences - called genetic variants - in the less-studied regions of the genome … regulating gene activity. A better understanding of these genetic variants should provide clues to understanding how diseases develop. … To find which genetic variants are associated with a disease, researchers …
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… recognizes the importance of including minorities in genetic disease research. NHGRI has several examples of … on training minority scientists and on understanding the genetic basis of diseases that disproportionately affect … NIH Curriculum Supplement Series for High School - Human Genetic Variation A free, classroom-tested collection of …
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 …