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- 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)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… trait. People with sickle cell trait have one copy of the genomic variant that causes sickle cell disease, a genetic …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… calculate polygenic risk scores by comparing the genomic data of people with and without a particular disease. … populations. The new consortium, called PRIMED , will pool genomic information from existing and new datasets to develop … populations. Researchers have used available large-scale genomic datasets to develop the ability to calculate …
Event
The Ethical Legal and Social Implications (ELSI) Research Program is hosting a webinar to gather specific feedback on four potential goals for the field of ELSI research over the next decade.
News Release
The NHGRI Short Course in Genomics brings the latest genomics science to the classroom.
… outreach, Carla Easter, Christina Daulton, Belen Hurle, diversity in genomics workforce … The NHGRI Short Course in …
Staff
Valentina Di Francesco is NHGRI's Chief Data Science Strategist and Director of the Office of Genomic Data Science within the NHGRI Office of the Director.
… Data science Strategist and Director of the Office of Genomic Data Science. In this role, she will provide … for NHGRI activities, programs and policies in genomic data science. Ms. Di Francesco joined NHGRI in 2014 … Science Program . She coordinated a diverse portfolio of genomic data science and computational biology grants and …
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… is important for everyone to be informed about continuing genomic research and to understand the ethical, legal and … in May 2002; its name was subsequently changed to the Diversity Action Plan (DAP). The goal has been to increase … of Excellence in Genomic Science, sequence production and database centers. To learn more about these opportunities, …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This … Consortium resources serve as well-curated authoritative genomic compendia of diverse model organism annotations to … NHGRI-funded MODs/data resources namely, the Mouse Genome Database (MGD) , WormBase , Zebrafish Information Network …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… of the central challenges in biology is understanding how genomic variation affects genome function to influence … multiple funding opportunities to establish the Impact of Genomic Variation on Function (IGVF) Consortium , the … of Directors from 2015-18 and currently serving on the Diversity and Inclusion Task Force. Dr. Rotimi will be …
News Release
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… to a new genomics study in Nature Genetics . … New Genomic Data The international team of researchers, including … genetic variation data. "Until now, there has been little genomic information from the peoples of North Asia," said … selected Mongolians currently included in the Human Genome Diversity Panel , while some Northern European populations …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… The Implementing Genomic in Practice (IGNITE) Network was established in 2013 …  and RFA-HG-13-004 ) to develop methods for incorporating genomic information into clinical care and explore the … the network, IGNITE I , was a consortium of collaborative genomic medicine pilot Demonstration Projects designed to …