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- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium2
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
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 … law regarding return of genetic IRRs and IFs is the Clinical Laboratory Improvement Amendments of 1988 (CLIA) , … ​ … Human Subjects Research, Genetics Research, Clinical Trials, Data Privacy, Human Rights, Federal Laws Protecting …
FAQ
Frequently asked questions from the November 2, 2022 webinar that provided an overview of the Funding Opportunity Announcement (FOA) for the AnVIL Clinical Resource (ACR)Â RFA-HG-22-021.
… of the ACR to provide functionality to return results to clinical research subjects?  Yes, the purpose of the ACR is to provide genomic-based clinical resources within the AnVIL platform to support clinical genomic research. … Will the ACR center be limited …
Event
NHGRI hosts a webinar to provide an overview of the the Entry-Level Modules (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) (PAR-23-123) funding opportunity.
… (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) ( PAR-23-123 ) funding … (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) (PAR-23-123) funding opportunity. … (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) (PAR-23-123) funding opportunity. …
FAQ
Questions and answers from the April 11, 2023 Entry-Level Modules (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) (PAR-23-123) funding opportunity webinar.
… we expect that some medical assistants will support clinical trials, while others will not be involved in research at all. … (ELM) for Training the Genomics Research Workforce (R25-Clinical Trial Not Allowed) ( PAR-23-123 ) funding …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … of Us Cohort P058 Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in … Pathways by Differential Tractography Correlate with Clinical Outcomes Following Gene Therapy for GM1 …
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.
… and the field of genomics.  … After ~16 years as Clinical Director within NHGRI's Intramural Research Program, … physician and a scientist. Although he has stepped down as Clinical Director, he will remain at NHGRI to focus on his … He then came to NIH for successive fellowships in clinical genetics and clinical biochemical genetics within …
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: … Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different? Presenter: … Augmentation At Its Finest: How to use genomic based clinical informatics to change the clinical culture that …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… Session 12:55 p.m. - Break Session 4: Machine learning in clinical genomics Moderators: Casey Overby Taylor, Ph.D. … …  … Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics … To bring together … hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to prepare clinical treatment trials. … GNE Myopathy is a rare ( autosomal recessive ) …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through awards just announced by the National … … The awards are part of a two-year initiative, called the Clinical Center Genomics Opportunity (CCGO), which is …