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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
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- Impact of Genomic Variation on Function (IGVF) Consortium3
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- 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
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… Why was it so difficult to fully complete the human genome sequence? The Human Genome Project ended in 2003, but genomic researchers had not … with a vision. Even with new technologies, genome sequencing is still tough, time-consuming work that requires …
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.
… published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , …
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 … software tool to assemble truly complete (i.e., gapless) genome sequences from a variety of species. This software, … 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 … are you most proud of? Jim Mullikin: Of course, the Human Genome Project is one of the top ones. I started working on …
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 … researchers to produce a complete sequence of the human genome. “This accomplishment begins a new era in genomics … 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.
… discuss the first complete, gapless sequence of a human genome via virtual conference call on March 31. … The … 8% of DNA that was unable to be sequenced by the Human Genome Project and has eluded researchers for nearly two … 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.
… 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
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 … 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 …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… Ph.D., a postdoctoral fellow at the National Human Genome Research Institute (NHGRI), part of NIH, and an author of the study. “Only the chimpanzee genome sequence was fairly complete before this, but even … 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 … Ph.D., former scientific director of the National Human Genome Research Institute (NHGRI), who helped recruit … way genomic scientists across the world approach genome sequencing. Relying on his early training as a computer …