Search Results
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… 2014 Summary Statement Full Application Returning Exome and Whole Genome Results to Underserved Minority …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… C, Rugarli EI, Langer T, Gahl WA, Toro C . Whole-exome sequencing identifies homozygous AFG3L2 mutations in a …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… causes the disease using a genomic technique called whole exome sequencing. "Genome sequencing provided the key link …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… Ongoing T2D research activities at CRGGH include (1) whole-exome sequencing of African families with at least four … research activities in the branch include whole-exome sequencing of AA families with multiple affected … associated kidney damage. The project is establishing an exome catalogue of 2,400 AA, with the ultimate goal of …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… sequencing of the protein-coding portion of the genome, or exome. The clinical sequencing results will meet standards …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… parts of the genome that code for proteins, known as the exome. They found that Rohith had a mutation in both copies …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… Also in one study, compared with genome sequencing, exome sequencing missed diagnosing some known conditions. …