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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
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… provides a path towards collaborative, community-driven genomics research. … In August 2020 the Centers for Disease Control and Prevention identified that Indigenous … and impacts of environmental change. Given the finite resources available to Alaska Native people, researchers and …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… treatments, which appear to provide a potential for sickle cell, are among the most widely publicized medical … people have differing levels of knowledge of biology and genomics. Interestingly, while some physicians were … success for the patients,” Bonham said. … Additional Resources … About NHGRI and NIH … As genome-editing trials …
Event
The Current Topics in Genome Analysis lecture series offers a mixture of local and outside speakers covering the major areas of genomics.
… An automated mailing list has been set up for this course, and we ask all participants to subscribe to … Analysis" lecture series. Given the rapid advances in genomics and bioinformatics that have taken place in the past … give the lectures designed to cover the major areas of genomics. The lectures are geared at the level of first year …
Event
The National Human Genome Research Institute is hosting a seminar, "Genomics, Imaging and AI - three technologies that are changing biological research through to clinical practice," on January 10, 2023. Dr. Ewan Birney is the guest speaker.
… Genome Research Institute (NHGRI) will host a seminar, " Genomics, Imaging and AI - three technologies that are … as the bedrock of how we understand living systems: genomics, including nucleic acid-based molecular biology … clinical applications. Lastly, he will provide perspective for the future of these technologies with their impressive …
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.
… researchers explain how they use artificial intelligence for their genomic studies. … As researchers continue to unravel the many mysteries of genomics, they require more and more sophisticated … intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their …
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.
… sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big … is piecing together one of the most complex puzzles in genomics: the first truly complete human genome sequence. He … Ph.D., a renowned computational biologist at The Institute for Genomic Research. In 2000, the field of genomics was …
Event
The Genomics and Health Disparities Lecture Series was formed to enhance opportunities for dialogue about how innovations in genomics research and technology can impact health disparities. Topics will range from basic science to translational research.
… in the YouTube playlist … Video Recordings … Contact … The Genomics and Health Disparities Lecture Series was formed to enhance opportunities for dialogue about how innovations in genomics research and technology can impact health …
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.
… 3 billion bases (or “letters”) in our DNA is critical for understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain … Doi: 10.1126/science.abl4178 (2022) … Papers … Related Resources … About NHGRI and NIH … Researchers generate the …
Event
The Advances in Genomic Technology Development meeting and Genome Technology Forum were hosted by the National Human Genome Research Institute (NHGRI) Technology Development Coordinating Center (TDCC) at The Jackson Laboratory in Farmington, CT from June 10-13, 2024.
… to share and discuss key opportunities and challenges for advanced genomic sequencing and synthesis technologies, … The lecture speakers discussed emerging technologies for understanding human genome functions and technologies for making and sequencing DNA and RNA. Recordings of the …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… the Human Genome Project and other major advances in genomics. … Anna Rogers: What accomplishments in your career … contribute to human health and disease. Another big one for me was working with Svante Pääbo on the Neanderthal … most excited about in the future of genome sequencing and genomics? Mullikin: I think new technologies will continue to …