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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… is critical for understanding the full spectrum of human genomic variation and for understanding the genetic … These studies provide more accurate information about the genomic variants within 622 medically relevant genes. … studies that aim to establish comprehensive views of human genomic variation, or how people’s DNA differs. Such insights …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… involved in several other big projects looking at human genomic variation. Early in the Human Genome Project, even … draft, we were already talking about how we needed to find genomic variants and then start studying those variants and … opened up many possibilities to look at all human genomic variation, not just single-nucleotide variants, but …
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… but his accomplishments have already changed the way genomic scientists across the world approach genome … to complete the arduous process of putting the human genomic puzzle together. He excelled at Loyola College. In a … community came together to answer the call of making diversity and inclusion front and center in their work.” …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
… DNA sequencing technologies generate different types of genomic puzzle pieces. Some are small and highly detailed, … genome sequences, researchers can better assess human genomic diversity. With only one gapless human genome sequence, …
Event
The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney for a special seminar to celebrate the center’s first year of operation.
… biology to make breakthroughs in our understanding of genomic code. Please join us for what is sure to be a …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial … researchers have known for more than 20 years that genomic variants in the RUNX1 gene cause the disorder, it is … of European ancestry . This current lack of ancestral diversity may hinder scientists’ and clinicians’ ability to …
Event
Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and health disparities.
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.
… and Inova Health System researchers are launching The Genomic Ascertainment Cohort (TGAC), a two-year pilot project … that cause or contribute to them. NIH will establish a new database of 10,000 human genomes and exomes, the 1-2 percent … consent to be re-contacted will participate in TGAC. The Genomic Ascertainment Cohort (TGAC) offers a …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… collection of genome sequences that captures more human diversity. “Adam’s vision for our new Center will uniquely … applied genomics, comparative genomics, bioinformatics and genomic medicine. The newly established Center and its … a fundamental challenge in genomics: understanding how genomic variants affect genome function in giving rise to …
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.
… NIH findings may help researchers understand how genomic variation can affect behavioral differences in … owners around the world. The researchers found that the genomic differences among dog breeds are related to the … in the human genome can contribute to behavioral diversity among humans. Further research can help us draw a …