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Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… How does it work? … 1. Review of data We will review your de-identified sequencing data to … is not already registered) and enter an order in NHGRI Genomic Variant Confirmation (CRIS) for confirmation of … sample. An ordering clinician from your team should use one of the following two CRIS orders to request …
MINC
Each clinical setting is unique. Strategies that will work in your environment can be used to design your interventions based on suggested options from the Champions.
… Each clinical setting is unique. Strategies that will work in your environment can be used to design your interventions … nursing awareness, competency, integration and utilization of genomic information in nursing healthcare delivery are …
Talking Glossary
Data science involves the study of large, complex data sets that arise from various types of research projects.
… Data Science … Data science involves the study of large, … from various types of research projects. With respect to genomic studies, such work requires expertise in quantitative …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… Bay Area) were open-ended discussions about the future of genomics. We continue to build on what we learn from each … This collaboration yielded five new videos, two of which use footage from the original History Channel interviews; the … to decipher one's ancestral origins. ' Zarko's Story: Genomic Medicine in Action ' reveals the experience of a …
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… Jeannine Mjoseth … The use of racial and ethnic categories in biomedical research is … identity, family background and ancestry derived from genomic analyses," said Dr. Green. NHGRI and NIMHD are …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… Sequencing Program Analysis Centers (GSPACs) were funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers. The GSPACs undertake … currently funded centers are: Harvard University School of Public Health Vanderbilt University School of Medicine A …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with … as determined by Dr. Venditti's review of the laboratory data; residing in a hospital; any patient who requires … … Chandler, R. J. and Venditti, C. P. Genetic and genomic systems to study methylmalonic acidemia.  Mol Genet …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… for patients with genetic disorders. NHGRI is part of the National Institutes of Health.     Dr. Solomon takes the position with extensive experience in healthcare and industry settings. He has been chief of the … leader in the advancement of medical genetics and genomic medicine. The program has made extraordinary advances …
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… Research focuses on the development and application of computationally intensive approaches to analyze large-scale genetic and genomic data, with a particular focus on identifying genetic … genetic association and linkage studies. They also use innovative approaches to distinguish genuine genetic …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to … involving clinical specimens. Assuming an active role in the development, implementation, and quality assurance of … and help maintain standards of excellence in clinical care, the OCD holds a weekly conference to review the …