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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
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.
… Last month, Dr. Sara Hull (NHGRI Bioethics Core Director) and I answered questions about bioethics and genomics … up to the 30th anniversary of the launch of the Human Genome Project in October 2020. Check out the latest oral … two decades, researchers have cataloged numerous genomic variants that may play a role in human disease. However, …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… Green, M.D., Ph.D. … Thirty years ago, today, the Human Genome Project (HGP) officially launched. I was there on the … with the Human Genome Project successfully completed and genomics maturing into a well-respected discipline. I am … the largest and most comprehensive catalog of genomic variants that affect gene expression produced to date. The …
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.
… sharing is central to the field of genomics. Both human and non-human genomic data have been widely shared through … Phenotypes (dbGaP), model organism databases (e.g., Mouse Genome Informatics and Xenbase ), and cloud repositories … that the top contributors of clinically relevant genomic variants to ClinVar are commercial laboratories? These groups …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… 100th meeting of the National Advisory Council for Human Genome Research (NACHGR) will take place on September 18 and 19, 2023. Three times a year, NHGRI convenes NACHGR, a … are now finding previously unidentified genomic variants on the Y chromosome and, by studying these variants, …
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.
… of spring brings some good budgetary news for NIH and NHGRI. On March 11, the U.S. Congress passed a Fiscal … that the top contributors of clinically relevant genomic variants to ClinVar are commercial laboratories? These groups … significance of their results.   …  In 2003, the Human Genome Project ended with the generation of an essentially …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… As the heat rises and the summer arrives, you might be looking for some indoor … this analogy often applies when trying to identify genomic variants associated with phenotypes in large-scale sequence datasets. NIH is increasingly hosting genome-sequence datasets and other genomic datasets in cloud …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… addition to meeting with numerous researchers, students, and government leaders, I gave four talks – specifically, at … asked to lead the new NHGRI program. …  The Clinical Genome (ClinGen) Resource is an NHGRI-funded program and the … definitively associated with the most common form of the disease. The panel’s results were published in the journal …
The Genomics Landscape
In the January 2025 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Erin Ramos as the new director of the Division of Genome Sciences (DGSci).
… NHGRI. We just updated our Talking Glossary of Genomic and Genetic Terms with several new entries, including genetic … a PRS, researchers identify many locations across the genome that have been shown to be associated with a … for evaluating the clinical relevance of genes and genomic variants. With Dr. Ramos’ leadership, ClinGen has since grown …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He … a method to determine the percentage of mosaicism in a genome, and a program to create a family-specific reference … genome to reduce false positive and false negative variants created by incorrect short-read alignments. …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… April is upon us, bringing warmer weather and one of the highlights of the year, National DNA Day . On … with type 2 diabetes in Nigerians Doumatey, et al. Genome Med ., 2024 Mar, PMID : 38444015  It is estimated … opportunities for understanding RNA’s role in health and disease. You can read more about the report in a new feature …