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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
… M.D., Ph.D. … Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy to again allow unrestricted access to genomic summary results for most of the studies we support in order to advance health or …
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 … people. To create new ways to analyze and store genetic data. … CLINSEQ® study recruitment will focus on the …
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 … 25, 2019. … Genomics Research BRCA Exchange Aggregates Data on Thousands of BRCA Variants to Inform Understanding of …
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 …
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.
… Adult Endocrinology Alcohol Use Disorders Biomedical Informatics Cardiology Clinical … … To further its mission to train the next generation of physician-scientists and clinician-investigators, the NIH … training environment … NHGRI investigators harness genomic technologies to diagnose and treat both rare and …
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 … existing methodologies, benefits, and challenges in the use of population descriptors such as race, ethnicity, and … using population descriptors as a proxy to describe human genomic variation. These descriptors have reflected …
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 … Framework for an Evolving Field , with regards to legacy genomic data.  This workshop brought together leaders of …
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.
… Prabarna Ganguly, Ph.D. … The National Institutes of Health (NIH) Genomic Data Sharing Policy includes expectations for how … NHGRI will require explicit consent for future research use and broad data sharing of all genomic data derived from …
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 … secondary variants. Any secondary variants found in the research data will be clinically confirmed. The SGFS …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate … trials in Mendelian disorders. The series will follow one of two formats: (1) a journal club joined by one of the … study design, preclinical research, regulatory affairs, data management, funding/budgets, working with industry and …