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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.
… have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced … human genomic variation, disease and evolution.” The cost of sequencing a human genome using “short-read” …
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.
… Software opens the door for a greater number of complete genome sequences. … National Institutes of Health researchers … complete genome sequence.” The T2T consortium used new DNA sequencing technologies and analytical methods to generate …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics. … Anna … What accomplishments in your career are you most proud of? Jim Mullikin: Of course, the Human Genome Project is one …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… in genomics research. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), have produced the … incredibly long, consisting of about 6 billion bases, DNA sequencing machines cannot read all the bases at once. …
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.
… expert panel discuss the first complete, gapless sequence of a human genome via virtual conference call on March 31. … The … What: Virtual press conference to announce T2T consortium sequencing a complete human genome Moderator: Eric Green, …
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.
… team has generated the first truly complete sequence of a human Y chromosome , the final human chromosome to be … a team of researchers funded by the National Human Genome Research Institute (NHGRI), part of the National … sequence particularly difficult to complete. Assembling sequencing data is like trying to read a long book cut into …
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.
… innovation in genomics research. … The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has selected … about having access to the latest, most efficient, and cost-effective genomic technologies. We give them a spark to …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… species diversity and insights into evolution. … A team of researchers funded by the National Institutes of Health … Ph.D., a postdoctoral fellow at the National Human Genome Research Institute (NHGRI), part of NIH, and an author … has only become possible in recent years due to new DNA sequencing technologies and analysis methods. These …
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.
… things, Adam Phillippy has helped finally complete a human genome sequence. The researcher talks about his life path to … he hasn’t taken a biology class since his freshman year of high school. During our interview, he appears over the … has visions of complete human genome sequencing at a low cost that is available to everyone. Phillippy wants these …
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.
… Prabarna Ganguly, Ph.D. … Study of millions of people from diverse ancestral groups substantially … The authors include researchers at the National Human Genome Research Institute (NHGRI), part of the National …