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Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… Monosomy is the state of having a single copy of a chromosome pair instead of the usual two copies found in … Monosomy, Chromosome, Diploid, Genetic Diseasem, Turner Syndrome, Cri … Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the …
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 … that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet …
Educational Resources
Cloning is the process of making identical copies of an organism, cell, or DNA sequence.
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 …
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 Findings, Genetic …
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.
… The 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
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 …
Talking Glossary
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 within the same chromosome, but in reverse orientation. … An inversion in a chromosome occurs when a segment breaks off and reattaches within the same chromosome, but in reverse orientation. DNA may or may not be …
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 … Collaborative large-scale genome sequencing effort to identify rare risk and protective … Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, Dna Sequencing Technology …
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.