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- Genomics-Enabled Learning Health Systems (gLHS)2
- Ethical, Legal and Social Implications (ELSI) Research Program7
- 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
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. … … Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human Genome Research …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… Ph.D. … This accomplishment opens a new era in genomics research. … Researchers at the National Human Genome Research … results, published today in the journal Nature , show that generating a precise, base-by-base sequence of a human … incredibly long, consisting of about 6 billion bases, DNA sequencing machines cannot read all the bases at once. …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… … Grantees … Program Staff … Related Content … Genome Sequencing Informatics Tools (GS-IT) provides "researcher … rely on genomics in their biological, biomedical and clinical research. … Genome Sequencing Informatics Tools … Genome …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Disease Genomics Section. … The National Human Genome Research Institute (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and … His efforts will integrate laboratory-based and clinical methods to study several pediatric diseases, …
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., …
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
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 … of human genetics studies and the increasing number of clinical applications for genome sequencing, even greater … is being paid to understanding the underlying costs of generating a human genome sequence. Accurately determining …
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 … data from 2001 through October 2007 represent the costs of generating DNA sequence using Sanger-based chemistries and …