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- Developmental Genotype-Tissue Expression (dGTEx)1
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- Impact of Genomic Variation on Function (IGVF) Consortium3
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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.
… repeat along a stretch of DNA, sometimes referred to as a “gene array.” Your browser does not support the video tag. Y … the Animation The researchers focused on TSPY , another gene thought to be involved in sperm production. Copies of TSPY are organized in the second largest gene array in the human genome. Like other repetitive …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… to learn molecular biology techniques. At the time, the gene for Gaucher (pronounced go-shay) disease had just been … the one with Gaucher. A hereditary mutation in the GBA gene causes Gaucher. When a person inherits two mutated … will develop Gaucher. If they only inherit one mutated gene, they are called carriers, and their health is rarely …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… Around that time, NISC also participated in the Mammalian Gene Collection (MGC), a program that generated high-quality … Cells (MorPhiC) , which will systematically catalog human gene function. The program comprises five awards totaling … genes and characterize the phenotypic impact of loss of gene function at a molecular and cellular level. If …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… being completed, Dr. Kastner and his team identified the gene MEFV on chromosome 16 to be responsible for Familial … still lacking, they used positional cloning to find the gene, an effort that took eight years and an international … stage of genomics can be placed in three main categories: gene discovery, understanding the genetics of complex …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… Diseases Information Center (GARD) . … Genomics Research Gene-editing advance puts more gene-based cures within reach Notable accomplishments in …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… NIH researchers create new viral vector for improved gene therapy in sickle cell disease Finding new genetic mutations amid healthy cells ‘Sticky’ gene may help Valium calm nerves Nicotine addiction linked to diabetes through a DNA-regulating gene in animal models One little girl’s story highlights the …
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 May 2019.
… Supports Call for Moratorium on Clinical Uses of Germline Gene Editing 13 Genomes In the News Coast Redwood Walnut … Services Gasperini - A Genome-Wide Framework for Mapping Gene Regulation via Cellular Genetic Screens ENCODE … Expert Clinical Validity Curation of 164 Hearing Loss Gene–Disease Pairs Ingles – Evaluating the Clinical Validity …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… and assaying for specific phenotypes; measuring changes in gene and regulatory element activity; identifying and testing … Function and Phenotype , Defining Genomic Influence on Gene Network Regulation , Single-cell Profiling of Regulatory Element and Gene Activity in Relationship to Genome Function , Genomic …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… Nano-sized solution for efficient and versatile CRISPR gene editing ALS gene may be a hitchhiker’s guide to the neuron Gene regulators work together for oversized impact on …