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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.
… The Implementing Genomic in Practice (IGNITE) Network was established in 2013 ( … in diverse clinical settings. The first phase of the network, IGNITE I , was a consortium of collaborative … pragmatic clinical trial that aims to determine the effect of returning apolipoprotein L1 (APOL1) genetic risk …
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.
… M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: Rex L. … Induces Bias in Algorithm Development: Can Implementation of Genetic Information in Clinical Informatics Decision … p.m.  Intelligence Augmentation At Its Finest: How to use genomic based clinical informatics to change the clinical …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… we celebrated three anniversaries — the 70th anniversary of the discovery of DNA's double-helical structure, the 20th … April 25, that highlighted relevant and interesting topics in genomics and concluded with the annual Louise M. Slaughter … contributing ~$2.8 million over four years to support data collection and analysis. Applications for the Human …
News Release
The National Institutes of Health (NIH) Genomic Data Sharing Policy includes expectations for how researchers should obtain, share and access genomic data from human and non-human sources. As a leader in genomics, including relevant policy development and implementation, the National Human Genome Research Institute (NHGRI) encourages data sharing practices that go beyond the NIH expectations.
… The National Institutes of Health (NIH) Genomic Data Sharing Policy includes expectations for how researchers … NHGRI will require explicit consent for future research use and broad data sharing of all genomic data derived from human sources, such as … NHGRI is committed to the promotion of forward-thinking genomic data-sharing processes, with a …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… focusing on the research opportunities for connecting genomic variation to phenotype (see story below). This gathering was nothing short of intense, stimulating, and exhilarating, with numerous … planning workshop entitled "From Genome to Phenotype: Genomic Variation Identification, Association, and Function …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
… and consider how they relate to the ongoing use of legacy data;  Summarize current approaches to the use of population … All of Us Research Program National Cancer Institute National … Institute National Institute on Aging National Institute of Child Health and Human Development National Institute of …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… New National Institutes of Health (NIH) grants aim to gauge if genomics can be used … to help diagnose diabetes, keep heart disease patients out of hospitals and guide cancer clinicians and patients to the … extend beyond the academic medical center and explore the use of genomic medicine in community-based clinics and …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… Study seeks to learn about the role that your genes play in your health. We do this by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to what we know about your … health histories. We look at genes related to a variety of conditions, including heart disease, breast cancer, and …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Human Genome Research Institute have developed a number of software and analysis tools to help researchers around the world analyze and explore their genomic data. These tools are free and openly accessible to anyone. … for NextGen sequencing data. BuddySuite A collection of four independent, yet interrelated, command line programs …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… before applying? Responsibilities as a PI, consent, type of data accepted, and how to apply … What happens after my protocol is accepted?  How to send data, confirming preliminary results, and returning results … de-identified research exome/genome data for the presence of possible actionable secondary variants. Any secondary …