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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… Why was it so difficult to fully complete the human genome sequence? The Human Genome Project ended in 2003, but genomic researchers had not … with a vision. Even with new technologies, genome sequencing is still tough, time-consuming work that requires …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… … Overview … Grantees … Program Staff … Related Content … Genome Sequencing Informatics Tools (GS-IT) provides "researcher … in their biological, biomedical and clinical research. … Genome Sequencing Informatics Tools … Genome Sequencing …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… … The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on … of common and rare human diseases. … The National Human Genome Research Institute (NHGRI), part of NIH, today …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… updates and monitor the ‘Genomics2020’ calendar . … The Genome: Unlocking Life's Code exhibition is currently … of Child Health and Human Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) … and opportunities associated with the possible use of genome sequence information in the care of newborns. …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… updates and monitor the ‘Genomics2020’ calendar . … The Genome: Unlocking Life's Code exhibition is currently … the field of genomics. … Research studies that generate genome-sequence data rely on a reference sequence for making … were difficult to “read out” completely using the DNA-sequencing methods available at that time. In addition, the …
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.
… published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Kaegi … Ten intramural investigators will receive exome sequencing data as part of their clinical research projects … research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy Director … patients. Exome sequencing explores the 1-2 percent of the genome that codes for proteins, the most likely place to find …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research exome/genome data for the presence of possible actionable secondary …
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, … The current standard "best practice" in some clinical genome sequencing laboratories requires positive NGS findings …
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 … for Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective …