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- 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 Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
Clinical Research
The Institutional Review Board (IRB)Â is responsible for protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural investigators in NHGRI and a number of other institutes.
… protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural … An Introduction to Radiation for NIH Research Subjects NIH Clinical Research Studies Active Consent / Assent Documents … Federal-Wide Assurances (FWAs) FDA Guidance for IRBs, Clinical Investigators and Sponsors  FDA …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… … A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results. The research suggests that newer, faster, … may have important implications for the DNA sequencing of clinical samples, and perhaps affect the diagnostic pipeline …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… - particularly rare childhood diseases - is moving from research laboratories into general medical practice. Now, two … … "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI Director Eric D. Green, M.D., …
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.
… from being a Center (the National Center for Human Genome Research). That means NHGRI just turned 22 years old as an … and the field of genomics.  … After ~16 years as Clinical Director within NHGRI's Intramural Research Program, … well as genomic experts and technologies (including genome sequencing) to the program. As one of his UDP highlights, …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… have led to substantial reductions in the cost of genome sequencing. The underlying costs associated with different … they influence the scope and scale of almost all genomics research projects. … Significant scrutiny and attention have … of human genetics studies and the increasing number of clinical applications for genome sequencing, even greater …
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… The Social and Behavioral Research Branch (SBRB) aims to develop optimal approaches for the integration of genomic discoveries into clinical and community contexts. … Our research focuses on a … through using animal models to explore these connections. Clinical translation of genomic discovery We approach …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… For many years, the National Human Genome Research Institute (NHGRI) has tracked the costs associated with DNA sequencing performed at the sequencing centers funded by the Institute. This information …
Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… The NIH Intramural Sequencing Center (NISC) , established in 1997, is a … procedures. NISC's role within the National Human Genome Research Institute (NHGRI), and more broadly across NIH, aims … methods to analyze genomics data with applicability to clinical and basic science questions that were thought to be …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC. … longitudinally in patient care — that is, whole genome sequencing — rather than many different orderable panels. …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… Project Grant Program ( PA-19-056 ). …  Since 2011, the Clinical Sequencing Evidence-generating Research (CSER) consortium has … first phase of CSER, then called the Clinical Sequencing Exploratory Research program, began when NHGRI partnered with …