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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 October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… Finally, the first issue of my monthly newsletter – The Genomics Landscape – was in October 2013 . Happy 10th … medicine (a growing medical discipline that involves using a person’s genomic information as part of their … genome sequences that represent the diversity of the human population. The HPP partners have adopted GA4GH principles, …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas … diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and … and deputy director of the NIH Center for Research on Genomics and Global Health. "This project was born out of a …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic … some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to … provide a foundation for gaining greater insights into the genomics of human disease." These reports mark the …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
… legacy data;  Summarize current approaches to the use of population descriptors in/for legacy data;   Define … Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field , …
Staff
Dr. Teri Manolio is the director of the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… of common drug treatments. She also hopes to find ways of using a patient's genomic information to enhance diagnostic … NHGRI in 2005 as senior advisor to the NHGRI Director for population genomics, and in 2007 established NHGRI’s Office … population and clinical research, including the Population Architecture for Genomics and Epidemiology (PAGE) Network , …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… Investigator Institution Title Grant Number Mendelian Genomics Coordinating Center Susanne May University of … in 2021. The program comprises five Research Centers (RCs) and a Data Coordinating Center (DCC). The research centers … for which a candidate gene was not identified by solely using whole exome sequencing. The DCC will manage data …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… … In the first study of its kind, an international team of genomics researchers has identified new regions of the human … opening new avenues for research on skin diseases and cancer in all populations. … These findings may help … how the cells that produce skin pigment - melanocytes - and genes work together to protect skin from the damaging …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… Expression project, Human Pangenome Reference Consortium, Population Architecture Using Genomics and Epidemiology Consortium, and the …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… Eric Green, M.D., Ph.D. … As summer winds to an end and fall beckons, NHGRI will 'shift gears' a bit in its … Bay Area) were open-ended discussions about the future of genomics. We continue to build on what we learn from each … the research community in 2019. Researchers interested in using All of Us  data should register to get updates about …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… of the study participants reflect the diversity of the population. It is also necessary to understand ethical, legal … Materials About Genetics and Genomics Population Architecture using Genomics and Epidemiology (PAGE) Consortium Inside the …