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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 …
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." …
Educational Resources
Fluorescence in situ hybridization (FISH) is a laboratory technique for detecting and locating a specific DNA sequence on a chromosome.
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… of Child Health and Human Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) … for this screening. The recent advances in DNA sequencing technologies have triggered a growing interest in the use of … conditions. Since these conditions have disproportionately high morbidity and mortality in non-European populations, …
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 … tests that look for health problems such as diabetes and high cholesterol, as well as for genetic testing. … JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, et al. High incidence of unrecognized visceral/neurological …
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… translational genomics. Developing applications of genome technologies for the oncology clinic is an important priority … … Paul Meltzer, functional genomics, molecular profiling technologies, osteosarcoma profiling, melanoma profiling, … … Paul Meltzer, functional genomics, molecular profiling technologies, osteosarcoma profiling, melanoma profiling, …
Educational Resources
Northern blot is a laboratory technique used to detect a specific RNA sequence in a blood or tissue sample.
News Release
Funding to advance understanding of RNA biology and development of RNA-based technologies
… understanding of RNA biology and development of RNA-based technologies. … The National Institutes of Health (NIH) has … , as well as the creation of RNA-based technologies. RNA sequencing and the mapping of RNA modifications have gained … nature. Current methods may not be able to produce high quantities of molecules with the correct sequences and …
Fact Sheet
A fact sheet detailing how the project began and how it shaped the future of research and technology.
… Harbor Laboratory) of the International Human Genome Sequencing Consortium, the group involved in generating the … of the human genome. It was as close to complete as the technologies for sequencing DNA allowed at the time. The project was critical …