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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
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 … a renowned computational biologist at The Institute for Genomic Research. In 2000, the field of genomics was still …
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 …
Event
Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and health disparities.
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 … recently publishing two papers about their clinical and genomic studies of RUNX1-FPD. "Our study represents the …
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.
… 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 … papers and scientific reviews. He has received numerous awards, including the U.S. Presidential Early Career Award …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood … tag. To have a fuller understanding of the effects of genomic variation on disease, researchers urge the need to …
Media Advisory
The National Institutes of Health (NIH) will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA that was unable to be sequenced by the Human Genome Project and has eluded researchers for nearly two decades.
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… into question current policies on receiving secondary genomic findings. … A study published today by researchers at … individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare … , examines people's attitudes about receiving secondary genomic findings related to treatable or preventable …
News Release
Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he remains on as a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.
… worked on developing a method that could look at multiple genomic markers simultaneously for a human trait and on … we can start to try and tease out, in a practical way, genomic variants that are instrumental in causing common …