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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 …
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 …
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 … publication in Nature . “It provided a view of the whole landscape for the first time,” Bob Waterston said about … — and to be able to view it at different levels on a whole genome scale down to the individual sequence data.” …
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.
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… the project took on a wide range of other goals, from sequencing the genomes of model organisms to developing new technologies to study whole genomes. Besides delivering on the stated goals below, … E. coli, S. cerevisiae, C. elegans, D. melanogaster, plus whole-genome drafts of several others, including C. briggsae, …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… we will offer partnering institutes access to subsidized exome sequence data on a total of 1,000 NIH Clinical Center … from several sources: a monetary subsidy of $600 per exome from the Director's Challenge Innovation Award Program that is administered by OIR, reduced fee sequencing at the NIH Intramural Sequencing Center, clinical …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… towards research that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate … … The research is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. CSER2 builds upon the Clinical Sequencing Exploratory Research (CSER) Consortium , initiated …
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 … its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease to … Biesecker LG, et al. Prefernces for result delivery from exome sequencing/genome sequencing. Genet Med , 16(6):442-7. …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… markers and physical maps to present in-depth analyses of whole genome sequences, population studies have provided the … within the domestic dog. With the availability of large whole genome sequencing libraries, Dr. Parker is now extending her search …