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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 … pilot project data production involves the generation of sequencing information from a number of different genomes in …
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 …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human … tumor sample storage methods produced comparable DNA sequencing information - an important step that may enable … validate the tool, they tested its use in previous exome sequencing studies of 511 cancer patients. In 80 percent …
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) … the care of newborns. … 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 …
Educational Resources
Fluorescence in situ hybridization (FISH) is a laboratory technique for detecting and locating a specific DNA sequence on a chromosome.
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 … STSs are helpful in chromosome placement of mapping and sequencing data from many different laboratories. STSs serve … budget. … Human Genome Project, Complete Human Genome Sequencing, Long-range Planning, Gene Expression, Sequence …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… medicine, has many predicting that prenatal whole genome sequencing will be widely available in the next five years. … But before prenatal whole genome sequencing is adopted, physicians in obstetrics and … OB/GYNs are for the adoption of prenatal whole genome sequencing and how they view the related ethical issues." …
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 Participate in Genetic Sequencing Study CLINSEQ® Publications De Castro M, Johnston …