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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
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human … … NHGRI branch studying how genetic changes affect the structure and function of gene products leading to human … Research Branch studies how genetic changes affect the structure and function of gene products leading to human …
News Release
April 25, 2023 marks the 20th anniversary of the completion of the Human Genome Project and the 70th anniversary of the discovery of DNA’s double-helical structure, milestones being celebrated as part of National DNA Day.
… National DNA Day commemorates Human Genome Project’s completion and discovery of DNA’s double-helical structure. … Today marks the 20th anniversary of the completion of the Human Genome Project and the 70th anniversary of the discovery of …
The Genomics Landscape
In the April 2019 edition of The Genomics Landscape, NHGRI Director Eric Green previews the redesigned genome.gov website and its new features.
…  and monitor the 'Genomics2020' calendar . … The Genome: Unlocking Life's Code  exhibition is currently … A key element among these efforts is NHGRI's website, genome.gov . For the first time in 9 years, genome.gov is … Project in 2003 and the discovery of the double-helical structure of DNA in 1953. On this day, students, teachers, …
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.
… Phenotypes (dbGaP), model organism databases (e.g., Mouse Genome Informatics and Xenbase ), and cloud repositories … Disease Genomics, Centers for Mendelian Genomics, Whole Genome Sequencing in Psychiatric Disorders, Convergent … large-scale sequence datasets. NIH is increasingly hosting genome-sequence datasets and other genomic datasets in cloud …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… genomics: the 30th anniversary of the launch of the Human Genome Project in October 2020. To amplify that drumbeat, the … performed nearly 6,000 experiments – 4,834 for the human genome and 1,158 for the mouse genome – ENCODE was able to develop an updated and …
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.
… significance of their results.   …  In 2003, the Human Genome Project ended with the generation of an essentially complete sequence of the human genome. The project took the practical approach of using the … Project in 2003 and the discovery of DNA's double-helical structure in 1953. It is a unique day when students, …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… tool for all ancestries Broader access to clinical genome sequencing benefits diverse individuals with rare … for children with suspected cancer from routine whole-genome sequencing Clinical signatures of genetic epilepsies … helps to prioritize critically ill newborns for whole-genome sequencing Population genomic screening for common …
The Genomics Landscape
In the September 1, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., focuses on the NHGRI History of Genomics Program's preservation of historical assets related to the field of genomics as it celebrates its 10th anniversary.
… in the D.C. area — I would encourage you to visit the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s … 60th anniversary of the discovery of the double-helical structure of DNA and the 10th anniversary of the completion of the Human Genome Project . After traveling to 12 states and Canada, the …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… University in Stanford, CA on July 17, 2018. … The Genome: Unlocking Life's Code  exhibition is currently … of genomics.  …  After more than a decade, The Cancer Genome Atlas (TCGA) program is drawing to an end. A … the tumor and non-tumor samples, including exome and whole-genome sequencing, gene-expression profiling, copy-number …
The Genomics Landscape
In the August 2018 edition of The Genomics Landscape, NHGRI Director Eric Green announces the recent launch of the NHGRI Genomic Innovator Award.
… September 26, 2018 at Morehouse School of Medicine. … The Genome: Unlocking Life's Code  exhibition is currently … critical for the success of efforts such as the Human Genome Project , 1000 Genomes , ENCyclopedia Of DNA … or technologies that will accelerate research on the structure of genomes, the biology of genomes, or the biology …