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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 study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… into question current policies on receiving secondary genomic findings. … A study published today by researchers at … individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information. The …
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.
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… Native Health Board (ANHB) — co-sponsored a workshop on genomic research with the National Human Genome Research … was to cultivate trust and build relationships between the genomic research community and Alaska Native people, a … Indigenous populations like Alaska Native people in genomic analyses to ensure the benefits of genomic medicine …
Event
The Current Topics in Genome Analysis lecture series offers a mixture of local and outside speakers covering the major areas of genomics.
… the ability to: Explain the importance of using genomic approaches in modern biomedical research. Interpret … presented during the lectures. Assess, select, and apply genomic and bioinformatic techniques that can help advance …
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.
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
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. … their DNA and use that information to better guide their healthcare. Truly finishing the human genome sequence 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.
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 …
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 …