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Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature … Ph.D., assistant professor in the Department of Genetics, Genomics and Informatics at the University of Tennessee …
About NHGRI
There are many ways to stay connected with NHGRI and its Director, Dr. Eric Green. Below are convenient links to some of the major sites that NHGRI has developed for staying connected and learning more about genomics!
… Videos IBB Seminar: Creating the Fourth Chapter of Human Genomics Georgia Tech October 2, 2022 At The Forefront of … has developed for staying connected and learning more about genomics! … Green Day: An Interview with NHGRI Director … has developed for staying connected and learning more about genomics! … There are many ways to stay connected with …
News Release
ENCODE program directors in the Division of Genome Sciences turned to Reddit to answer questions from the Reddit community.
… - a social news website and discussion forum - to answer questions from the Reddit community. Here, we recap the event … answered over fifty questions related to the future of genomics, the ENCODE Project, and "dark matter" DNA, among … others. For example, the ENCODE team gave their thoughts about how DNA sequencing is a powerful way to answer numerous …
News Release
Fearful patients who received information about the role of genomics in obesity were less likely to take steps to improve health habits
… suggests that fearful patients who received information about the role of genomics in being overweight viewed the information as … genomic or behavioral underpinnings of weight and answered questions about their intentions to alter their diets or …
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.
… … As researchers continue to unravel the many mysteries of genomics, they require more and more sophisticated … using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic … machine learning to make these kinds of useful predictions about rare diseases, even with such little data, it would be …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… DNA sequences that make up a human genome. Learn more about this extraordinary achievement. … The Human Genome … human genome sequence. Instead, they had only completed about 92% of the sequence at that time. Why did they stop … A computer scientist’s quest to complete a critical genomics puzzle March 17, 2022 … Nurk et al. The complete …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… samples from people in the United States. To find out more about this laboratory, select the 'GeneTests' icon at the top … professional to contact the laboratory and learn more about the clinical diagnostic testing the laboratory offers. … Information (NCBI). The language on this page about trimethylaminuria is technical but is considered to be …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… are the signs and symptoms of porphyria? … What do we know about porphyria and heredity? … What triggers a porphyria … cutaneous porphyrias? … What are the acute porphyrias? … About Porphyria … The porphyrias are a group of different …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… being diagnosed now with an autism spectrum disorder, about half will have intellectual disabilities defined by … children show signs of autism in the first year of life, about 30 percent will seem fine and then regress in both … and social interactions at around 18 months of age. About 30 percent of children with autism have physical signs …
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.
… April was a busy and exciting month for NHGRI and the genomics community. On April 25 and 26, the institute hosted … of this council meeting on May 20, and further details about the agenda and ways to watch the open session will be … April 7–9 in Seattle, Washington. The meeting welcomed about 400 extramural trainees, training program directors and …