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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… observable traits, such as height, eye color or blood type. The project reverses a long-standing research paradigm … a new database of 10,000 human genomes and exomes, the 1-2 percent of the genome that contains protein-coding genes. …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
News Release
The Genetics and Public Policy and Genetics and Education Fellowships provide a pathway for scientists to pursue careers in science policy or education.
… in genetics and education the opportunity to explore this type of journey. The fellowship grants those who are heading …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… of having a condition called multiple endocrine neoplasia type 2, or MEN2A. People with MEN2A are at risk for several health …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… their findings in PNAS Nexus . Mitochondria are a type of cellular structure called an organelle and are …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… at a ceremony in Washington, D.C., on Tuesday, October 2, 2018. The presentation will be streamed live on the …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… Circulomics reported that it had successfully sequenced a 2.44 million base DNA fragment, which at the time was the … 10 are from chromosome 1, these 12 are from chromosome 2, and so on,” said Karen Miga, Ph.D., research scientist at … human body has about three meters of compacted DNA. Fig 2. A representative image where pure DNA (left) undergoes …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.