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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… Leslie Biesecker, M.D., chief of the National Human Genome Research Institute's (NHGRI) Medical Genomics and … all potential genetic features of inherited diseases by sequencing the genetic code is a powerful solution to … which genetic test or panel to order. "Having a patient's genome changes the paradigm of how medicine is currently …
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.
… a team of researchers funded by the National Human Genome Research Institute (NHGRI), part of the National … involved in human sexual development are spread across the genome and very complex, giving rise to the array of human … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… MacDougall … Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed … … "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said …
News Release
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… of Health (NIH) researchers have sequenced the whole genome of a dog that is native to the mountains of Sardinia, … in it clues about the migration of humans to the area. (A genome is an organism's complete DNA sequence.) The findings, … and guard humans as they have for hundreds of years. By sequencing the whole genome of a Fonni's Dog and comparing it …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… 100th meeting of the National Advisory Council for Human Genome Research (NACHGR) will take place on September 18 and … demonstrate the importance of looking at the entire genome, not just the parts that code for protein, when … dubbed the ‘G5’ and included leaders of the five genome-sequencing centers that produced the largest amount of human …
About Genomics
Resources for understanding the first truly complete sequence of the Y chromosome, the final human chromosome to be fully sequenced.
… X chromosome. When researchers completed the first human genome sequence 20 years ago, gaps were left in the sequences … of every chromosome, and in the race to sequence the human genome, the Y chromosome got left in the dust. Researchers …  Scientists Sequence Last Piece of The Human Genome: The Y Chromosome Science: ‘Most troublesome …
News Release
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic … This includes a number of coordinated large scale sequencing projects such as the HapMap and 1000 Genomes …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human Genome Research Institute (NHGRI), and the National Cancer … cancer patient's protein-coding exome, the portion of the genome where many key cancer-related genes are located. …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.Â
… innovation in genomics research. … The National Human Genome Research Institute (NHGRI), part of the National … Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC). In this role, Dr. Thomas will … insights into the non-coding regions of the human genome. During the COVID-19 pandemic, NISC helped researchers …
Educational Resources
The genome is the entire set of genetic instructions found in a cell.
… Genome … The genome is the entire set of genetic instructions found in a cell. … Genome, Genomics, DNA Sequence, Human Genome Project, Genes … The genome is the entire set of DNA …