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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
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 …
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 …
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 … 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 …
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 …
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. … …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… The SGFS will annotate de-identified research exome/genome data for the presence of possible actionable secondary variants. Any secondary variants found in the research data will be clinically confirmed. The SGFS …