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- Developmental Genotype-Tissue Expression (dGTEx)1
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Fact Sheet
En la actualidad, la terapia génica para la enfermedad de células falciformes se considera experimental y solo está a su disposición si participa en un estudio clínico.
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… , people can respond differently to a medication. A gene that is known to contain variants in some people that … substances, like medications. For example, the CYP2D6 gene encodes a protein that is involved in the metabolism of … People with certain genomic variants in the CYP2D6 gene can metabolize paroxetine too quickly or too slowly. The …
Event
Opening remarks from Eric Green, Christopher Donohue and Michael Rembis.
… prenatal screening and diagnosis as well as emerging gene-editing techniques could lead to the disappearance of …
Event
NHGRI's History of Genomics Program will host a one-day conference to explore and celebrate the work of David Depew on July 29, 2021.
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
… bioinformatics approaches, they selected the spike protein gene as their vaccine candidate. The spike protein is … versions of the vaccine. … … The target spike protein gene is then synthetically manufactured and inserted into in … easy to replicate (copy) and reliably contain the target gene sequence. Once a sequence is selected, a new plasmid can …
News Release
NHGRI has appointed Dr. Jennifer Troyer as the incoming director as the incoming director of the Division of Extramural Operations (DEO) within NHGRI’s Extramural Research Program (ERP). She will provide leadership in coordinating the institute’s extramural research grants, operations and policies.
… (H3Africa) initiative, co-managed the Genotype-Tissue Expression (dGTEx) program and served as the institute’s …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… Vision — The biological function(s) of every human gene will be known; for non-coding elements in the human … p.m. Prediction: The biological function(s) of every human gene will be known; for non-coding elements in the human … Distinctness of mental disorders traced to differences in gene readouts NIH’s TOPMed program publishes data on over …
The Genomics Landscape
In the July 2023 edition of The Genomics Landscape, NHGRI Director Eric Green describes the evolution of the NHGRI Intramural Research program over the last three decades talks about its future in conducting truly exceptional basic, translational, and clinical genomics research.
… which genes are "turned on” in each cell. This is known as gene regulation, which takes many forms. One common form of gene regulation involves chemical changes to the complex …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2019.
… A Bayesian Framework that Integrates Multi-Omics Data and Gene Networks Predicts Risk Genes from Schizophrenia GWAS … Public Webinar NPR Article - The Promises and Pitfalls of Gene Sequencing for Newborns 23 Clinical Pharmacogenetics … Mouse Phenotyping Consortium 29 Genotype-Tissue Expression Project (GTEx) GTEx Portal Database of Genotypes …
The Genomics Landscape
In the June 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. details the upcoming appointment of acting NHGRI Deputy Director, Vence Bonham Jr., J.D. and what it means for the institute.
… such projects, including positional cloning of a fusion gene in leukemia, the identification of the familial Mediterranean fever gene MEFV, and our current natural history study on patients … ancestry populations affects strategies for disease gene mapping. … Genomics Research Gene therapy restores …