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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
Policy Issues
Scientists have edited genomes for many years, but CRISPR technology has improved the speed, cost, accuracy, and efficiency of genome editing
… Techniques to modify DNA in the genome have existed for several decades, but the conversation about the science and ethics of genome editing has grown louder due to faster, cheaper, … technology has brought major improvements to the speed, cost, accuracy, and efficiency of genome editing. The history …
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.
… have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced … human genomic variation, disease and evolution.” The cost of sequencing a human genome using “short-read” …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical … research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy Director … surveillance or treatment for a separate condition. The cost of exome sequencing conducted through CCGO will be …
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 …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… before applying? Responsibilities as a PI, consent, type of data accepted, and how to apply … What happens after my … by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… The National Human Genome Research Institute (NHGRI) has produced this series of fact sheets to explain complex concepts in genomics … Sequencing, Epigenomics, Knockout Mice, Newborn Screening, Cost Of Sequencing A Human Genome, X Chromosome, Y Chromosome …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Disease Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and … disease phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery …
Outreach
The Genome: Unlocking Life's Code exhibition celebrates the 10th anniversary of the initial sequencing of the human genome.
… D.C. opened the high-tech, high-intensity exhibition Genome: Unlocking Life's Code to celebrate the 10th anniversary of researchers producing the first complete human genome … exhibition celebrates the 10th anniversary of the initial sequencing of the human genome. … Human Genome Sequencing, …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… The NSIGHT program was developed from the advice of experts who attended the December 13-14, 2010 meeting, … and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI). Funds are used to … (ELSI) of the possible implementation of genomic sequencing of newborns. Each research project collects a …
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.
… operating based on last year’s budget — awaiting passage of a new budget for the current fiscal year. The CR allows … setting. … As the sun came up on 1997, the Human Genome Project (then in its seventh of 13 years) was adding … sequence to public databases weekly, as large-scale DNA sequencing had advanced substantially. At that time, it …