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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 May 2024 issue of The Genomics Landscape, NHGRI Director Eric Green talks about the NHGRI Research Training and Career Development Annual Meeting, which provides a venue to foster support and a sense of community for NHGRI-funded trainees, equipping them with tools for success and more clarity about career possibilities.
… workshop entitled Population Descriptors for Legacy Genomic Data: Challenges and Future Directions , which will … workshops were offered to introduce trainees to the Genomic Analysis, Visualization, and Informatics Lab-space … fund a new educational hub for early-career researchers in genomic data science. The hub aims to form relationships …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… explain how they use artificial intelligence for their genomic studies. … As researchers continue to unravel the … type of cancer will progress , find disease-causing genomic variants and identify genetic disorders by examining … disorders and their severity, and to understand how genomic information influences decision-making.  View video …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… for ClinGen and program director in the Division of Genomic Medicine at NHGRI. … “Our study highlights the need … considered the paper as one of the top 10 advances in genomic medicine. With over 20 expert panels working on …
News Release
In August 2022, NHGRI History of Genomics Program celebrates 10 years of chronicling how the field of genomics began and evolved, with a particular emphasis on the role of NHGRI.
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… is critical for understanding the full spectrum of human genomic variation and for understanding the genetic … These studies provide more accurate information about the genomic variants within 622 medically relevant genes. … studies that aim to establish comprehensive views of human genomic variation, or how people’s DNA differs. Such insights …
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… but his accomplishments have already changed the way genomic scientists across the world approach genome … to complete the arduous process of putting the human genomic puzzle together. He excelled at Loyola College. In a … a renowned computational biologist at The Institute for Genomic Research. In 2000, the field of genomics was still …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function. … While most DNA … hundreds of millions of these differences, known as genomic variants , that exist across the human population. …
News Release
NHGRI has created a new publicly available digital archive and search aid for accessing documents related to the Human Genome Project and the history of genomics.
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… involved in several other big projects looking at human genomic variation. Early in the Human Genome Project, even … draft, we were already talking about how we needed to find genomic variants and then start studying those variants and … opened up many possibilities to look at all human genomic variation, not just single-nucleotide variants, but …