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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
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… genomic variants within 622 medically relevant genes. “Generating a truly complete human genome sequence represents … and for using genome sequence as a routine part of clinical care in the future. Many research groups have … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , …
News Release
Researchers and clinicians are sequencing human genomes faster than ever, so considering the societal implications of genomic data is even crucial.
… in 1990 with the anticipation that once we started generating massive amounts of human genomic data, there'd be … factors to consider. Now, researchers and clinicians are sequencing human genomes faster than ever, so considering the … question where there has been a lot of debate within the clinical genomics, pediatric and bioethics communities. …
Event
Pre-Application Webinar for the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) Funding Opportunity Announcement
… Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed)  NOT-HG-23-003 : Notice of … … Related Content … The National Human Genome Research Institute (NHGRI) is hosting a webinar to provide an …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … Predicting Genetics Referrals P224 Using long-read sequencing for genomic and epigenomic analysis in …
Media Advisory
The National Institutes of Health (NIH) will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA that was unable to be sequenced by the Human Genome Project and has eluded researchers for nearly two decades.
… for nearly two decades. The National Human Genome Research Institute (NHGRI) will host a press conference in … What: Virtual press conference to announce T2T consortium sequencing a complete human genome Moderator: Eric Green, …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  … treatments in the future. At the NIH, we are interested in research. Although we do provide advice and care for people …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that … the future. … ADHD often appears to run in families, and research studies have suggested that there may be a genetic … contributing to ADHD to improve treatment in the future. … Clinical Research …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… I plan to provide regular updates about NHGRI and genomics research, news, and events. Follow and engage with me via @ … institute and the field of genomics. … Ben Solomon, NHGRI Clinical Director, with NHGRI Director Dr. Eric Green and … On Nov. 12, Benjamin Solomon, M.D., started as NHGRI’s Clinical Director. In this position, he is responsible for …
Research Training
An opportunity for students to receive individualized research mentoring, learn about careers in genomics and have access to a network of early-career genome scientists.
… M.D., Ph.D., NHGRI Director … The National Human Genome Research Institute (NHGRI) Division of Intramural Research is … workforce of genome scientists in basic, behavioral, clinical and social science research.  iSPRinG … Genomics (iSPRinG), Training Programs, Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Sean David University of Chicago Integrative Analyses of Clinical Pharmacogenetic Data to Prevent Hospital Readmission … University of California, San Francisco Building the Evidence Base for Appropriate and Efficient Implementation of … University of California, San Francisco Toward DNA Sequencing as a Primary Newborn Screen for Treatable …