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News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this … patients who are experiencing symptoms, then they look for variants in the patients’ genomes that might explain those … of symptoms of the disorders and the associated genomic variants. “Genomics has the potential to change reactive …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… However, it is difficult to identify which sequence variants are relevant to disease. As a result, information on only a few genomic variants is used in clinical practice. One factor that limits … of openly accessible knowledge bases that capture genetic variants, their phenotypic and functional effects and other …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in … is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation , … develop standard processes for reviewing data about gene variants and their connections to health and disease. These …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… (NHGRI) have generated the largest catalog of genetic variants associated with physical traits for domesticated dog … in Nature Communication , will help researchers assess if variants associated with dog body structure, behavior and … and genome-wide association studies to identify genomic variants associated with sixteen observable characteristics. …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full … spectrum, including rare diseases likely to be due to rare variants with strong effects (Mendelian), and common, … genetically complex diseases that are caused by many variants. The GSP will also develop methods, tools, and …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin … research group that identified an overlapping set of variants of the same gene in patients with a similar type of … in their study. The researchers found that harmful variants in the CECR1 gene impede production of a protein …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … three hours per exome to analyze an individual's protein-coding genes. … The UDP is part of the Undiagnosed Diseases … a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty genes in …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… the status and opportunities surrounding the discovery of variants conferring risk for common disease. He said that one … (examining all of the genome, not just the protein coding area), how to identify actionable genetic variants … of variants, new computational models and research on non-coding variants. As the use of "clinical and personal DNA …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… areas of the genome related to brain development harbor variants that may account for behavioral differences among … areas of the genome related to brain development harbor variants that may account for behavioral differences among … areas of the genome related to brain development harbor variants that may account for behavioral differences among …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… data for the presence of possible actionable secondary variants. Any secondary variants found in the research data will be clinically …