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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
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; … into newly described disorders. The study was published in the American Journal of Human Genetics . “We demonstrated … of Allergy and Infectious Disease (NIAID) Centralized Sequencing Protocol, which together allowed analyses to be …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… Comparative genomics is a field of biological research in which researchers use a variety of tools to compare the … pinpoints genes that are essential to life and highlights genomic signals that control gene function across many … biology of living things have changed over time. As DNA sequencing technology becomes more powerful and less …
Talking Glossary
La hibridación in situ es una técnica de laboratorio empleada para localizar una secuencia de ADN o ARN en una muestra biológica.
… Hibridación in situ … La hibridación in situ es una técnica de laboratorio empleada para localizar … una secuencia de ADN o ARN en una muestra biológica. … In situ hybridization is a laboratory technique used to …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… DNA sequencing determines the order of the four chemical building … scientists the kind of genetic information that is carried in a particular DNA segment. For example, scientists can use … Cancer Institute, is using DNA sequencing to unravel the genomic details of some 30 cancer types. Another National …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… science and society. I look forward to working with them in the coming months! In case you missed it live, the first … ensure that all members of society benefit equitably from genomic advances, with particular attention given to the … the 1980s discussing the desirability and feasibility of sequencing the human genome, to the U.S. Department of …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … we developed significantly narrows down the number of genomic changes that could be responsible for an individual's … to investigate the almost seven bad gene variants per patient, but it's an improvement over previous approaches …
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.
… This month, we travel to Boston, MA to hold a Town Hall in partnership with the Massachusetts General Hospital on … of the public. Specifically, the discussions will focus on genomic variation identification, association, and function … of Child Health and Human Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… brings great anticipation about what this year might bring in terms of amazing genomic advances. Before staring too long into your crystal … and the field of genomics.  … The NIH Intramural Sequencing Center  (NISC) sits on the top floor of a research …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… the human genome sequence? The Human Genome Project ended in 2003, but genomic researchers had not yet determined every last base … 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.
… for these researchers. The GS-IT strategy is to invest in existing tools of known utility to make them robust, … … Grantees … Program Staff … Related Content … Genome Sequencing Informatics Tools (GS-IT) provides "researcher … biological, biomedical and clinical research. … Genome Sequencing Informatics Tools … Genome Sequencing Informatics …