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News Release
New grants totaling approximately $29.5 million will enable scientists to generate and maintain the most comprehensive reference sequence of the human genome.
… The funds are necessary for making advances in DNA sequencing technology and computational methods possible. As … will represent 350 genomes from the human population. The sequencing of the human genome was a landmark achievement in … The second component – the Human Reference Genome Sequencing Center - aims to sequence up to 350 additional …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute. ​
… investigator. She has participated in numerous genome sequencing projects including mouse, rat, cow and chicken, as … that the molecular mechanisms of disease differ across tumor types. Furthering the complexity of regulated gene … in tumors, characterized by extensive methylation of the tumor phenotype. The Elnitski group identified a methylator …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… where he combined his interests in early genome sequencing of the Escherichia coli genome with the nascent … expedited gene discovery on this chromosome, and directed sequencing efforts in the early days of the Human Genome Project. In 1997, he co-founded the NIH Intramural Sequencing Center (NISC) as director of the Bioinformatics …
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.
… What: Virtual press conference to announce T2T consortium sequencing a complete human genome Moderator: Eric Green, …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… studies phenotypes and genetic determinants of familial tumor-predisposition disorders. The goal of his work is to … variation that influences phenotype severity (e.g., tumor burden and pigmentary differences). He sees patients … is leading a project which uses new high-throughput sequencing technologies to identify, catalog and characterize …
Educational Resources
Cloning is the process of making identical copies of an organism, cell, or DNA sequence.
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… approach of using the best-available technologies for sequencing DNA and pushing them to their absolute limits. In … filling in the remaining bits because the technologies for sequencing DNA at that time were clearly not up to the task. … Project, more powerful technologies, such as long-read DNA sequencing methods and newer computational tools, aided …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will … NHGRI to Intramural Investigators employing exome/genome sequencing. ​ … DNA Sequencing, Exam Sequencing, Genome Sequencing, Secondary …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… types, particularly in signaling pathways that promote tumor development and growth. The researchers developed a … to characterize tumors and determine both the pathway a tumor uses to send signals and its relative aggressiveness. Where a tumor lies on a scale - called its thyroid differentiation …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… sequence to public databases weekly, as large-scale DNA sequencing had advanced substantially. At that time, it … Eric Green, proposed the idea of establishing a DNA sequencing center at NIH to Francis Collins and Jeff Trent … joined forces with NHGRI to establish the NIH Intramural Sequencing Center (NISC) in the fall of 1997. . . and the …