Search Results
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Dr. James Thomas is the director of the NIH Intramural Sequencing Center. He oversees the importation and use of DNA sequencing technologies, protocols and analyses, ensuring … R.T, Thomas, J.W. A recurrent inversion on the eutherian X chromosome . Proc. Natl. Acad. Sci. USA, 104:18571-18576. …
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 …
Educational Resources
Cloning is the process of making identical copies of an organism, cell, or DNA sequence.
Clinical Research
This team-based clinical service is 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 …
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 …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… genome was announced by the International Human Genome Sequencing Consortium ( Finishing the euchromatic sequence of … transcriptional regulatory sequences and determinants of chromosome structure and function, such as origins of … from whole genome shotgun assemblies or obtained by direct sequencing of BAC clones, are submitted and updated …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on … for Common Disease Genomics (CCDG), which will use genome sequencing to explore the genomic contributions to common … cystic fibrosis and muscular dystrophy. "Advances in DNA sequencing are creating tremendous new opportunities for …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and … Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective … Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, Dna Sequencing Technology … A collaborative …
Talking Glossary
An inversion in a chromosome occurs when a segment breaks off and reattaches within the same chromosome, but in reverse orientation.
… Inversion … An inversion in a chromosome occurs when a segment breaks off and reattaches within the same chromosome, but in reverse orientation. … An inversion in a chromosome occurs when a segment breaks off and reattaches …
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.