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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 team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… species diversity and insights into evolution. …  A team of researchers funded by the National Institutes of Health … generated the first complete chromosome sequences from non-human primates. Published in Nature , these sequences uncover … and an author of the study. “Only the chimpanzee genome sequence was fairly complete before this, but even that still …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… Eric Green, M.D., Ph.D. … Happy New Year! The arrival of 2018 brings great anticipation about what this year might … that mission, regularly generating large amounts of genome-sequence data and analyses for numerous NHGRI and NIH … . Later, NISC became involved in NIH Common Fund's Human Microbiome Project , in which genome sequencing was …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… Steven Benowitz … An international team of scientists from the 1000 Genomes Project Consortium has … in addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National … a database available to researchers as a standard reference for how the genomic make-up of people varies in …
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.
… will be useful for accurately reading the genomes of individual humans and other animals, plants and insects. … … a new technique for reconstructing highly accurate reference genomes and applied it to the domestic goat-a … will contribute to the Genome10K project, which plans to sequence the genomes of at least one individual from each …
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.
… experts, healthcare professionals, and interested members of the public. Specifically, the discussions will focus on … variation identification, association, and function in human health and disease. If you are in the Boston area, we … opportunities associated with the possible use of genome sequence information in the care of newborns. Specifically, …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
… The GS-IT strategy is to invest in existing tools of known utility to make them robust, reliable, documented, … 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 …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… had not yet determined every last base (or letter) of the human genome sequence. Instead, they had only completed about 92% of the … 10.1126/science.abk3112 (2022) Aganezov et al. A complete reference genome improves analysis of human genetic variation …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Family Health History … Genomic variation refers to DNA sequence differences among individuals or populations. Some …
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 … in clinical research. CCGO is co-sponsored by the National Human Genome Research Institute (NHGRI), the NIH Deputy … 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.
… 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 … de-identified research exome/genome data for the presence of possible actionable secondary variants. Any secondary …