Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… researchers explain how they use artificial intelligence for their genomic studies. … As researchers continue to … and treat genetic conditions. Artificial intelligence tools , which mimic human intelligence to solve problems, are … acidemia have higher levels of a chemical called propionic acid in their bodies, which can cause organ damage and …
Educational Resources
Translation is the process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein synthesis.
… where mRNA is read and translated into the string of amino acid chains that make up the synthesized protein. … …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… … More than many other diagnostic technologies, genome sequencing carries the possibility of incidental or … genome sequencing uncovers signs of possible genetic risk for disease in patients who are too young to give informed … core concepts of pediatric ethics" as guiding principles for using genome sequencing in clinical practice: the best …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… DNA sequencing determines the order of the four chemical building … information that is carried in a particular DNA segment. For example, scientists can use sequence information to … always pairs with guanine (G). This pairing is the basis for the mechanism by which DNA molecules are copied when …
News Release
NHGRI awards $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, cheaper and more accurate.
… new awards," said Michael Smith, Ph.D., program director for NHGRI's Genome Technology Program. "The awards enable novel research in RNA function across a broad swath of … awards have been made through a program called the Novel Nucleic Acid Sequencing Technology Development program …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… (GSP). … The two-day meeting, titled, Future Opportunities for Genome Sequencing and Beyond: A Planning workshop for the … (CSER) program and the Genome Sequencing Informatics Tools (GS-IT) program. NHGRI should continue its role as a … Centers for Mendelian Genomics have made discoveries of novel genetic bases or novel clinical features of more than …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… (HGP). In addition to creating an essential resource for biomedical research, the HGP helped define NHGRI's niche: … paradigms and approaches, and creating data resources and tools. The specific activities of the Genome Sequencing … The Genome Sequencing Program Analysis Centers undertake novel, investigator-initiated computational analyses of the …
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
… … In the nearly four years since its launch, the Clinical Sequencing Exploratory Research (CSER) program has made … and colleagues recently met in Bethesda, Maryland, for a one-day conference, Integrating Genomic Sequencing into … variants found in DNA sequencing. "We need to develop new tools and standards for genomic testing. Labs should work …
Educational Resources
An exon is the portion of a gene that codes for amino acids.
… Exon … An exon is the portion of a gene that codes for amino acids. … Intron, DNA Sequence, DNA Expression, RNA, … Some exons are coding, in that they contain information for making a protein, whereas others are non-coding. Genes in … and introns. … An exon is the portion of a gene that codes for amino acids. … Educational Resources …