Search Results
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… University in Baltimore, Maryland. The center provides high-throughput genotyping to scientists at NIH and at research …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… and established initiatives focused on the use of high-throughput "omics" technologies, the development of big-data …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… patients with GD and other lysosomal disorders. Additional screening using mutant enzyme from patients with GD … O, Southall N, Choi JH, Marugan J, Austin CP, Sidransky E. High throughput screening for small molecule therapy for Gaucher …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… in biology and medicine by applying tools ranging from high-throughput biologic methods, large scale informatics methods, …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine because … lives. In my home country of Paraguay, you go from high school directly to medical school. I have to say that I … different physical manifestations. With advances in high-throughput DNA sequencing over the last decade, more skeletal …
News Release
NHGRI researcher Dr. Julie Segre has been elected to the National Academy of Medicine, one of the highest honors in the fields of health and medicine.
… Ph.D., NHGRI Director.  Dr. Segre’s laboratory integrates high-throughput DNA-sequencing technologies, algorithm development …
Staff
Dr. Lisa Helbling Chadwick is a program director in Division of Extramural Research at the National Human Genome Research Institute. ​
… evaluation of candidate variants, and the development of high-throughput genomic technologies related to gene expression or …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… the design and selection of overgo probes optimized for high-throughput comparative mapping. SubmiRine A software package …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… Using next-generation DNA sequencing, a fast and high-throughput method for sequencing nucleic acids (like DNA and … too much sugar circulating in the bloodstream. Prolonged high blood sugar levels can lead to heart disease, kidney …
Research Funding
A list of the current courses that are funded by the NHGRI Initiative to Maximize Research Education in Genomics.
… to build competence in statistical methods for analyzing high-throughput data in genomics and molecular biology. The …