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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 …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… your health. We do this by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to … of McArdle disease from gene frequency by analysis of next-generation sequencing data.  Genet Med,  2015. [In Press]   …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Medicine before returning to NHGRI and the NIH Intramural Sequencing Center in 2011. He is currently the deputy director of the NIH Intramural Sequencing Center. As deputy director of NISC, Dr. Thomas evaluates and oversees implementation of new DNA sequencing technologies and protocols as well as efficiency …
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 … diabetes, stroke and autism. NHGRI also announced the next phase of a complementary program, the Centers 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 …
News Release
Jeffery Schloss, Ph.D., founding director of the Division of Genome Sciences, is embarking on a new journey: retirement.
… from a successful career that included leading NHGRI's DNA Sequencing Technology Development Program. He also aided in … spending his years conducting research and preparing the next generation of researchers. But his plans changed drastically …
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.
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 … of ENCODE pilot project data production involves the generation of sequencing information from a number of …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… the 1980s discussing the desirability and feasibility of sequencing the human genome, to the U.S. Department of … biomedical research. The International Human Genome Sequencing Consortium committed to rapid data sharing , … disease and COVID-19 — Peter McGuire Fueling the next genomic revolution: Maximizing the impact of bacterial, …