Search Results
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 …
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 …
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 … from whole genome shotgun assemblies or obtained by direct sequencing of BAC clones, are submitted and updated … pilot project data production involves the generation of sequencing information from a number of different genomes in …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural research community, … vision for NISC will further expand the institute’s sequencing resources and propel robust, cutting-edge …
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
A genetic marker is a DNA sequence with a known physical location on a chromosome.
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
Staff
Dr. Adam Phillippy is head of the Genome Informatics Section and the chief and senior investigator in the Center for Genomics and Data Science Research at NHGRI.
… genomics datasets, focusing on the challenges of genome sequencing and comparative genomics. He is a pioneer of single-molecule sequencing for the reconstruction of complete genomes and is … Analysis Center and pioneered the use of single-molecule sequencing for the reconstruction of complete microbial …
Media Advisory
On Monday, June 24, 2019, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program investigators will present genomic research findings on implications for health and care of newborns during a public webinar session from 1:30 - 5:15 p.m Eastern.
… of the National Human Genome Research Institute’s Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) … Topics include: How can genomic sequencing replicate or augment known newborn screening results? What knowledge could genomic sequencing provide about conditions not screened for in …