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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
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Reports of genomic sequencing being applied to the medical care of individual … and analyze evidence regarding the clinical utility of genome sequencing; 2) research the critical interactions … laboratories that influence implementation of clinical genome sequencing; and 3) identify and address real-world …
About Genomics
Resources for understanding the first complete, gapless sequence of a human genome.
… uncovered the final DNA sequences that make up a human genome. Learn more about this extraordinary achievement. … The Human Genome Project ended in 2003, but genomic researchers had not … Credit: Ernesto Del Aguila III, NHGRI  Video: Fully sequencing the human genome Credit: Harry Wedel, NHGRI  …
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. …