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News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… in addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National … investigators identified about 88 million sites in the human genome that vary among people, establishing a database …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… researchers. This includes software dedicated to sequence quality, alignment, assembly, variant calling, … … Overview … Grantees … Program Staff … Related Content … Genome Sequencing Informatics Tools (GS-IT) provides … in their biological, biomedical and clinical research. … Genome Sequencing Informatics Tools … Genome Sequencing …
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.
… variation identification, association, and function in human health and disease. If you are in the Boston area, we … updates and monitor the ‘Genomics2020’ calendar . … The Genome: Unlocking Life's Code  exhibition is currently … opportunities associated with the possible use of genome sequence information in the care of newborns. Specifically, …
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… that presents a new method for high-quality, low-cost genome reconstruction. In addition to the goat genome, this … and insects. … The study, by researchers at the National Human Genome Research Institute (NHGRI), part of NIH, and the … will contribute to the Genome10K project, which plans to sequence the genomes of at least one individual from each …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… having uncovered the final DNA sequences that make up a human genome. Learn more about this extraordinary achievement. … … determined every last base (or letter) of the human genome sequence. Instead, they had only completed about 92% of the …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… in clinical research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy Director … CCGO funds, the NIH Intramural Sequencing Center will sequence the exomes of 1,000 NIH Clinical Center patients. …
Clinical Research
This team-based clinical service is 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 … by NHGRI to Intramural Investigators employing exome/genome sequencing. ​ … DNA Sequencing, Exam Sequencing, …
News Release
NHGRI celebrated the 15th anniversary of the Human Genome Project with a "15 for 15" Celebration that commemorates the genomic advances since 2003.
… Palmer … On April 25th - National DNA Day - the National Human Genome Research Institute (NHGRI) will celebrate the 15th anniversary of the completion of the Human Genome Project. To commemorate this milestone and the …
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 … NHLBI. We currently estimate that the CCDG program will sequence approximately 100K whole genomes and 125K whole … for Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI). Funds are used to … Green Alan Beggs Brigham and Women's Hospital Genome Sequence-Based Screening for Childhood Risk and Newborn …