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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
The Genomics Landscape
In the November 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the History of Genomics Program, which has long worked to make various materials related to the history of genomics accessible to the public.
… on December 12-13. This year’s meeting focuses on host genomics and infectious disease. The aim of this meeting, … genomics to infectious disease research and clinical care. While registration has closed for in-person attendance, … for Information Technology (CIT) Ancient Genetic Clues into Modern Human Disease Complex Trait Genetics Webinar …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… work together to develop and implement approaches to integrating extant genotype and phenotype data for the … and ethical considerations from these WGs are incorporated into variable selection, use, and interpretation in PRIMED. … … will work together to develop and implement approaches to integrating extant genotype and phenotype data for the …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… understanding the complications, we may gain insight into what causes them. This knowledge may help guide the … in our study, we are not able to "take over" the long-term care of a person with MMA To enroll in our study, a person … urine, and clinical history. Dr. Venditti will determine patient eligibility when definitive testing has not been …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… enrolled in a research study when first seeking clinical care, conversations about how genomic data may later be … to a wide range of patients.  As the lines between patient care and research continue to evolve and blur, these … are critical to maintaining the trust of the public in genomics research. Did you know that the top contributors of …
About Genomics
An interactive timeline listing key moments from the history of the project.
… establish rapid prepublication data release as the norm in genomics and other fields. Project leaders reconvene in … key moments from the history of the project. … About Genomics …
Human Genome Project
Record and submit a short video, capturing your thoughts/concerns/excitement about the launch of the Human Genome Project.
… of the 2020 Strategic Vision for the next decade of human genomics research in late October. … Video criteria … Sharing …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… Advances in genomics are helping you access information about your genome … them with information about their genome? Advances in genomics since the Human Genome Project have led to an … clinical genomic testing, such as for cancer [see Cancer Genomics ] and prenatal screening [see NIPT ] in which a …
Genomics 101
Find out how the rapidly emerging field of genomics is transforming our understanding of human health and enabling advances that benefit all of humankind.
… and aging. Find out how the rapidly emerging field of genomics is transforming our understanding of human health … offers access to reliable and timely information about genomics research and the human genome. Our resources and … the hands of teachers and students. … Genomics 101 … Dive into Genomics … Genomics in the Classroom … Glossary of …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Condition Study Albinism Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Alkaptonuria Study of … Alstrom Syndrome Clinical and Molecular Investigations into Ciliopathies Amino Acid Metabolism Clinical and …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis. … … Institute (NHGRI), prepares a tea party every time her patient Jojo (last name withheld for privacy) comes to visit. … of which are thought to be caused by alterations in the patient’s DNA. Each rare disorder affects a small population, …