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Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… The Genome Sequencing Program Analysis Centers (GSPACs) were funded in … Sequencing, Dna Sequence Analysis Tools, Bioinformatics, Clinical Informatics, Big Data, Data Science … Funded in 2016 … and analyze the data produced by the sequencing centers. … Research Funding …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see  … to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations and their … Your blood sample, when processed for next generations sequencing, can reveal changes in the DNA of your blood …
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.
… Medical and research centers are increasingly sequencing patient exomes … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new … As genomic technologies have advanced and the  cost of sequencing has decreased , it has become feasible to produce … consortium were incorporated into the Clinical Sequencing Exploratory Research ( CSER) consortium  Among other aspects …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human Genome Research …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… researchers will use to develop high quality, low cost DNA sequencing technology through new grants from the National … grants, which total approximately $14.5 million to eight research teams over two to four years as funds become … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Alcohol Use Disorders Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical … Oncology Transfusion Medicine Translational Addiction Research Urologic Oncology … The NIH Clinical Electives … concepts in clinical genetics Learn about genomic sequencing and management of genetic disorders Participate in …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases … individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective … implementation, diffusion, and sustainability in diverse clinical settings. The first phase of the network,  IGNITE I … of Chicago Mary Relling, PharmD, St. Jude Children’s Research Hospital Jordan Smoller, MD, ScD, Massachusetts …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: Rex L. Chisholm, Ph.D. … Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different? Presenter: …