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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
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… is challenging traditional practices for validating DNA sequencing results. The research suggests that newer, faster, … and his co-workers, reported their findings March 28, 2016 in the online edition of the journal Clinical Chemistry . The … NGS can identify differences in the DNA sequence - called genomic variants - as accurately as Sanger sequencing. To …
Event
On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a constant tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities.
… clinical practice is the question of how experts can act in the best interest of patients and research participants … Striking the Balance Between Expert Perspective and Patient Autonomy  - exploring this tension at multiple levels in genomics research and medicine, from patient-provider …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. Funding is … (ELSI) of the possible implementation of genomic sequencing of newborns.  Each research project collects a …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and … designs to better understand the general principles of genomic architecture underlying common, complex inherited … Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective …
Outreach
The Genome: Unlocking Life's Code exhibition celebrates the 10th anniversary of the initial sequencing of the human genome.
… On June 14, 2013, the Smithsonian Institution in Washington, D.C. opened the high-tech, high-intensity … populations; and what the next decade holds in terms of genomic advances. A Spectrum of Perspectives: Native Peoples … exhibition celebrates the 10th anniversary of the initial sequencing of the human genome. ​ … Human Genome Sequencing, …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… we eagerly await a new budget for Fiscal Year 2023. In September, President Biden announced his intention to … Records (EHRs). FHIR provides an opportunity for the genomic medicine research community to develop ways to … sequence to public databases weekly, as large-scale DNA sequencing had advanced substantially. At that time, it …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… genetics at the University of Iowa Hospitals and Clinics. In this role, Dr. Shchelochkov was routinely recognized with … so many areas of genomics — including clinical care and patient management, bioinformatics and emerging technologies … M.D., M.D./Ph.D. and D.O. include: Medical Genetics and Genomic Medicine Residency Program  Maternal Fetal Medicine …
Talking Glossary
Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care.
… Genomic Medicine … Genomic medicine is a medical discipline that involves using … a person’s genomic information as part of their clinical care. … Genomic medicine is a medical discipline that … a person’s genomic information as part of their clinical care. Other similar terms include individualized medicine, …
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 multi-disciplinary genomics facility that … data, but to produce the infrastructure required to bring genomic sequence to biology and medicine. We accomplish this …
Talking Glossary
La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para detectar y localizar una secuencia de ADN especÃfica en un cromosoma.
… Hibridación fluorescente in situ (FISH) … La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para … de ADN especÃfica en un cromosoma. … Fluorescence in situ hybridization (abbreviated FISH) is a laboratory …